KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-05-08

AUTHORS

Audrey Putoux, Sophie Thomas, Karlien L M Coene, Erica E Davis, Yasemin Alanay, Gönül Ogur, Elif Uz, Daniela Buzas, Céline Gomes, Sophie Patrier, Christopher L Bennett, Nadia Elkhartoufi, Marie-Hélène Saint Frison, Luc Rigonnot, Nicole Joyé, Solenn Pruvost, Gulen Eda Utine, Koray Boduroglu, Patrick Nitschke, Laura Fertitta, Christel Thauvin-Robinet, Arnold Munnich, Valérie Cormier-Daire, Raoul Hennekam, Estelle Colin, Nurten Ayse Akarsu, Christine Bole-Feysot, Nicolas Cagnard, Alain Schmitt, Nicolas Goudin, Stanislas Lyonnet, Férechté Encha-Razavi, Jean-Pierre Siffroi, Mark Winey, Nicholas Katsanis, Marie Gonzales, Michel Vekemans, Philip L Beales, Tania Attié-Bitach

ABSTRACT

Tania Attié-Bitach and colleagues report that biallelic mutations in KIF7, a component of the Hedgehog signaling pathway, cause hydrolethalus and acrocallosal syndromes. They also present evidence that heterozygous KIF7 mutations contribute to the allelic load and phenotypic spectrum of other cilia disorders.

PAGES

601-606

Journal

TITLE

Nature Genetics

ISSUE

6

VOLUME

43

Author Affiliations

  • Université René Descartes, Paris, France
  • Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA
  • Department of Pediatrics, Pediatric Genetics Unit, Hacettepe University Medical Faculty, Ankara, Turkey
  • Department of Medical/Pediatric Genetics, Ondokuz Mayis University, Samsun, Turkey
  • Department of Medical Genetics, Gene Mapping Laboratory, Hacettepe University Medical Faculty, Ankara, Turkey
  • Service de Gynécologie-Obstétrique, Centre Hospitalier (CH) Sud Francilien, Evry, France
  • INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France
  • Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
  • Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
  • Service d'Anatomie et Cytologie Pathologiques, CH Victor Dupouy, Argenteuil, France
  • Université Pierre et Marie Curie, Paris, France
  • Genomic Core Facility, Imagine Fondation, Hôpital Necker-Enfants Malades, Paris, France
  • Service de Bioinformatique, Université Paris Descartes, Paris, France
  • Service de Génétique, CHU de Dijon, Dijon, France
  • Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
  • Service de Génétique, Hôpital d'Angers, Angers, France
  • CNRS UMR 8104, Institut Cochin, Université Paris Descartes, Paris, France
  • IFR 94, Faculté de Médecine Necker, Paris, France
  • Molecular, Cellular and Developmental Biology, University of Colorado at Boulder, Boulder, Colorado, USA
  • Department of Cell Biology, Duke University Medical Center, Durham, North Carolina, USA
  • Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London, UK
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.826

    DOI

    http://dx.doi.org/10.1038/ng.826

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1020365937

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/21552264


    Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
    Incoming Citations Browse incoming citations for this publication using opencitations.net

    JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Genetics", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Acrocallosal Syndrome", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Adolescent", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cerebral Ventricles", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Child", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Child, Preschool", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cilia", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Consanguinity", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Female", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Hand Deformities, Congenital", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Heart Defects, Congenital", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Hedgehog Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Hydrocephalus", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Infant", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Kinesins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Magnetic Resonance Imaging", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Male", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Mutation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Pedigree", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Universit\u00e9 Ren\u00e9 Descartes, Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.508487.6", 
              "name": [
                "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France", 
                "Universit\u00e9 Ren\u00e9 Descartes, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Putoux", 
            "givenName": "Audrey", 
            "id": "sg:person.0662217443.29", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0662217443.29"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Universit\u00e9 Ren\u00e9 Descartes, Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.508487.6", 
              "name": [
                "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France", 
                "Universit\u00e9 Ren\u00e9 Descartes, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Thomas", 
            "givenName": "Sophie", 
            "id": "sg:person.013055414007.57", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013055414007.57"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands", 
              "id": "http://www.grid.ac/institutes/grid.10417.33", 
              "name": [
                "Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Coene", 
            "givenName": "Karlien L M", 
            "id": "sg:person.0721707065.72", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0721707065.72"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA", 
              "id": "http://www.grid.ac/institutes/grid.189509.c", 
              "name": [
                "Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA", 
                "Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Davis", 
            "givenName": "Erica E", 
            "id": "sg:person.013142226242.77", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013142226242.77"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics, Pediatric Genetics Unit, Hacettepe University Medical Faculty, Ankara, Turkey", 
              "id": "http://www.grid.ac/institutes/grid.14442.37", 
              "name": [
                "Department of Pediatrics, Pediatric Genetics Unit, Hacettepe University Medical Faculty, Ankara, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Alanay", 
            "givenName": "Yasemin", 
            "id": "sg:person.01157067411.76", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01157067411.76"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical/Pediatric Genetics, Ondokuz Mayis University, Samsun, Turkey", 
              "id": "http://www.grid.ac/institutes/grid.411049.9", 
              "name": [
                "Department of Medical/Pediatric Genetics, Ondokuz Mayis University, Samsun, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ogur", 
            "givenName": "G\u00f6n\u00fcl", 
            "id": "sg:person.01144102302.35", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01144102302.35"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical Genetics, Gene Mapping Laboratory, Hacettepe University Medical Faculty, Ankara, Turkey", 
              "id": "http://www.grid.ac/institutes/grid.14442.37", 
              "name": [
                "Department of Medical Genetics, Gene Mapping Laboratory, Hacettepe University Medical Faculty, Ankara, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Uz", 
            "givenName": "Elif", 
            "id": "sg:person.01225475260.74", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225475260.74"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Service de Gyn\u00e9cologie-Obst\u00e9trique, Centre Hospitalier (CH) Sud Francilien, Evry, France", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Service de Gyn\u00e9cologie-Obst\u00e9trique, Centre Hospitalier (CH) Sud Francilien, Evry, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Buzas", 
            "givenName": "Daniela", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gomes", 
            "givenName": "C\u00e9line", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Service de G\u00e9n\u00e9tique et d'Embryologie M\u00e9dicales, H\u00f4pital Armand Trousseau, Assistance Publique-H\u00f4pitaux de Paris (AP-HP), Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.413776.0", 
              "name": [
                "Service de G\u00e9n\u00e9tique et d'Embryologie M\u00e9dicales, H\u00f4pital Armand Trousseau, Assistance Publique-H\u00f4pitaux de Paris (AP-HP), Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Patrier", 
            "givenName": "Sophie", 
            "id": "sg:person.0640546516.74", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0640546516.74"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical/Pediatric Genetics, Ondokuz Mayis University, Samsun, Turkey", 
              "id": "http://www.grid.ac/institutes/grid.411049.9", 
              "name": [
                "Department of Medical/Pediatric Genetics, Ondokuz Mayis University, Samsun, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bennett", 
            "givenName": "Christopher L", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.412134.1", 
              "name": [
                "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Elkhartoufi", 
            "givenName": "Nadia", 
            "id": "sg:person.01303323422.05", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01303323422.05"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Service d'Anatomie et Cytologie Pathologiques, CH Victor Dupouy, Argenteuil, France", 
              "id": "http://www.grid.ac/institutes/grid.414474.6", 
              "name": [
                "Service d'Anatomie et Cytologie Pathologiques, CH Victor Dupouy, Argenteuil, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Frison", 
            "givenName": "Marie-H\u00e9l\u00e8ne Saint", 
            "id": "sg:person.01311173236.55", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01311173236.55"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Service de Gyn\u00e9cologie-Obst\u00e9trique, Centre Hospitalier (CH) Sud Francilien, Evry, France", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Service de Gyn\u00e9cologie-Obst\u00e9trique, Centre Hospitalier (CH) Sud Francilien, Evry, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Rigonnot", 
            "givenName": "Luc", 
            "id": "sg:person.01357306436.78", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01357306436.78"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Universit\u00e9 Pierre et Marie Curie, Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.462844.8", 
              "name": [
                "Service de G\u00e9n\u00e9tique et d'Embryologie M\u00e9dicales, H\u00f4pital Armand Trousseau, Assistance Publique-H\u00f4pitaux de Paris (AP-HP), Paris, France", 
                "Universit\u00e9 Pierre et Marie Curie, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Joy\u00e9", 
            "givenName": "Nicole", 
            "id": "sg:person.016673155264.10", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016673155264.10"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Genomic Core Facility, Imagine Fondation, H\u00f4pital Necker-Enfants Malades, Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.412134.1", 
              "name": [
                "Genomic Core Facility, Imagine Fondation, H\u00f4pital Necker-Enfants Malades, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Pruvost", 
            "givenName": "Solenn", 
            "id": "sg:person.01010062352.83", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01010062352.83"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics, Pediatric Genetics Unit, Hacettepe University Medical Faculty, Ankara, Turkey", 
              "id": "http://www.grid.ac/institutes/grid.14442.37", 
              "name": [
                "Department of Pediatrics, Pediatric Genetics Unit, Hacettepe University Medical Faculty, Ankara, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Utine", 
            "givenName": "Gulen Eda", 
            "id": "sg:person.01117331017.35", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01117331017.35"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics, Pediatric Genetics Unit, Hacettepe University Medical Faculty, Ankara, Turkey", 
              "id": "http://www.grid.ac/institutes/grid.14442.37", 
              "name": [
                "Department of Pediatrics, Pediatric Genetics Unit, Hacettepe University Medical Faculty, Ankara, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Boduroglu", 
            "givenName": "Koray", 
            "id": "sg:person.01103634254.33", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01103634254.33"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Service de Bioinformatique, Universit\u00e9 Paris Descartes, Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.508487.6", 
              "name": [
                "Service de Bioinformatique, Universit\u00e9 Paris Descartes, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Nitschke", 
            "givenName": "Patrick", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Fertitta", 
            "givenName": "Laura", 
            "id": "sg:person.011552072365.82", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011552072365.82"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Service de G\u00e9n\u00e9tique, CHU de Dijon, Dijon, France", 
              "id": "http://www.grid.ac/institutes/grid.31151.37", 
              "name": [
                "Service de G\u00e9n\u00e9tique, CHU de Dijon, Dijon, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Thauvin-Robinet", 
            "givenName": "Christel", 
            "id": "sg:person.01056047406.31", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01056047406.31"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.412134.1", 
              "name": [
                "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France", 
                "Universit\u00e9 Ren\u00e9 Descartes, Paris, France", 
                "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Munnich", 
            "givenName": "Arnold", 
            "id": "sg:person.01161470727.47", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01161470727.47"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.412134.1", 
              "name": [
                "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France", 
                "Universit\u00e9 Ren\u00e9 Descartes, Paris, France", 
                "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Cormier-Daire", 
            "givenName": "Val\u00e9rie", 
            "id": "sg:person.01131140550.50", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01131140550.50"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands", 
              "id": "http://www.grid.ac/institutes/grid.7177.6", 
              "name": [
                "Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hennekam", 
            "givenName": "Raoul", 
            "id": "sg:person.01354615474.24", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01354615474.24"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Service de G\u00e9n\u00e9tique, H\u00f4pital d'Angers, Angers, France", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Service de G\u00e9n\u00e9tique, H\u00f4pital d'Angers, Angers, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Colin", 
            "givenName": "Estelle", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical Genetics, Gene Mapping Laboratory, Hacettepe University Medical Faculty, Ankara, Turkey", 
              "id": "http://www.grid.ac/institutes/grid.14442.37", 
              "name": [
                "Department of Medical Genetics, Gene Mapping Laboratory, Hacettepe University Medical Faculty, Ankara, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Akarsu", 
            "givenName": "Nurten Ayse", 
            "id": "sg:person.0630133713.34", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0630133713.34"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Genomic Core Facility, Imagine Fondation, H\u00f4pital Necker-Enfants Malades, Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.412134.1", 
              "name": [
                "Genomic Core Facility, Imagine Fondation, H\u00f4pital Necker-Enfants Malades, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bole-Feysot", 
            "givenName": "Christine", 
            "id": "sg:person.01324351512.85", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01324351512.85"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Service de Bioinformatique, Universit\u00e9 Paris Descartes, Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.508487.6", 
              "name": [
                "Service de Bioinformatique, Universit\u00e9 Paris Descartes, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Cagnard", 
            "givenName": "Nicolas", 
            "id": "sg:person.0747515131.18", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747515131.18"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "CNRS UMR 8104, Institut Cochin, Universit\u00e9 Paris Descartes, Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.462098.1", 
              "name": [
                "CNRS UMR 8104, Institut Cochin, Universit\u00e9 Paris Descartes, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Schmitt", 
            "givenName": "Alain", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "IFR 94, Facult\u00e9 de M\u00e9decine Necker, Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.508487.6", 
              "name": [
                "IFR 94, Facult\u00e9 de M\u00e9decine Necker, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Goudin", 
            "givenName": "Nicolas", 
            "id": "sg:person.01117305423.00", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01117305423.00"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.412134.1", 
              "name": [
                "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France", 
                "Universit\u00e9 Ren\u00e9 Descartes, Paris, France", 
                "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lyonnet", 
            "givenName": "Stanislas", 
            "id": "sg:person.01177147171.55", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01177147171.55"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.412134.1", 
              "name": [
                "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France", 
                "Universit\u00e9 Ren\u00e9 Descartes, Paris, France", 
                "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Encha-Razavi", 
            "givenName": "F\u00e9recht\u00e9", 
            "id": "sg:person.01347423620.16", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01347423620.16"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Universit\u00e9 Pierre et Marie Curie, Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.462844.8", 
              "name": [
                "Service de G\u00e9n\u00e9tique et d'Embryologie M\u00e9dicales, H\u00f4pital Armand Trousseau, Assistance Publique-H\u00f4pitaux de Paris (AP-HP), Paris, France", 
                "Universit\u00e9 Pierre et Marie Curie, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Siffroi", 
            "givenName": "Jean-Pierre", 
            "id": "sg:person.01064043521.41", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01064043521.41"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Molecular, Cellular and Developmental Biology, University of Colorado at Boulder, Boulder, Colorado, USA", 
              "id": "http://www.grid.ac/institutes/grid.266190.a", 
              "name": [
                "Molecular, Cellular and Developmental Biology, University of Colorado at Boulder, Boulder, Colorado, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Winey", 
            "givenName": "Mark", 
            "id": "sg:person.01351273155.01", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01351273155.01"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Cell Biology, Duke University Medical Center, Durham, North Carolina, USA", 
              "id": "http://www.grid.ac/institutes/grid.414179.e", 
              "name": [
                "Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA", 
                "Department of Cell Biology, Duke University Medical Center, Durham, North Carolina, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Katsanis", 
            "givenName": "Nicholas", 
            "id": "sg:person.01066263150.73", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01066263150.73"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Universit\u00e9 Pierre et Marie Curie, Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.462844.8", 
              "name": [
                "Service de G\u00e9n\u00e9tique et d'Embryologie M\u00e9dicales, H\u00f4pital Armand Trousseau, Assistance Publique-H\u00f4pitaux de Paris (AP-HP), Paris, France", 
                "Universit\u00e9 Pierre et Marie Curie, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gonzales", 
            "givenName": "Marie", 
            "id": "sg:person.01004742043.29", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01004742043.29"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.412134.1", 
              "name": [
                "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France", 
                "Universit\u00e9 Ren\u00e9 Descartes, Paris, France", 
                "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Vekemans", 
            "givenName": "Michel", 
            "id": "sg:person.01244712422.57", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01244712422.57"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London, UK", 
              "id": "http://www.grid.ac/institutes/grid.83440.3b", 
              "name": [
                "Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Beales", 
            "givenName": "Philip L", 
            "id": "sg:person.07410601737.16", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07410601737.16"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.412134.1", 
              "name": [
                "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France", 
                "Universit\u00e9 Ren\u00e9 Descartes, Paris, France", 
                "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Atti\u00e9-Bitach", 
            "givenName": "Tania", 
            "id": "sg:person.0636115230.62", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0636115230.62"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/ng.97", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038326482", 
              "https://doi.org/10.1038/ng.97"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature07883", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047609318", 
              "https://doi.org/10.1038/nature07883"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng2039", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033385115", 
              "https://doi.org/10.1038/ng2039"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg2774", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047735807", 
              "https://doi.org/10.1038/nrg2774"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.594", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031002347", 
              "https://doi.org/10.1038/ng.594"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.756", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046869860", 
              "https://doi.org/10.1038/ng.756"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.366", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1053591273", 
              "https://doi.org/10.1038/ng.366"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature04370", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015112636", 
              "https://doi.org/10.1038/nature04370"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-213x-2-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034322166", 
              "https://doi.org/10.1186/1471-213x-2-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature08895", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016398543", 
              "https://doi.org/10.1038/nature08895"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/79951", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007182261", 
              "https://doi.org/10.1038/79951"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2011-05-08", 
        "datePublishedReg": "2011-05-08", 
        "description": "Tania Atti\u00e9-Bitach and colleagues report that biallelic mutations in KIF7, a component of the Hedgehog signaling pathway, cause hydrolethalus and acrocallosal syndromes. They also present evidence that heterozygous KIF7 mutations contribute to the allelic load and phenotypic spectrum of other cilia disorders.", 
        "genre": "article", 
        "id": "sg:pub.10.1038/ng.826", 
        "inLanguage": "en", 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.2498792", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.4117163", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2773239", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2499110", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2559380", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2526674", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1103138", 
            "issn": [
              "1061-4036", 
              "1546-1718"
            ], 
            "name": "Nature Genetics", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "6", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "43"
          }
        ], 
        "keywords": [
          "acrocallosal syndrome", 
          "phenotypic spectrum", 
          "biallelic mutations", 
          "allelic load", 
          "syndrome", 
          "cilia disorders", 
          "hydrolethalus", 
          "mutations", 
          "disorders", 
          "hedgehog", 
          "pathway", 
          "evidence", 
          "Kif7", 
          "colleagues", 
          "components", 
          "load", 
          "spectra"
        ], 
        "name": "KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes", 
        "pagination": "601-606", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1020365937"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/ng.826"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "21552264"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/ng.826", 
          "https://app.dimensions.ai/details/publication/pub.1020365937"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2022-05-20T07:26", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20220519/entities/gbq_results/article/article_529.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1038/ng.826"
      }
    ]
     

    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/ng.826'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/ng.826'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng.826'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng.826'


     

    This table displays all metadata directly associated to this object as RDF triples.

    534 TRIPLES      22 PREDICATES      73 URIs      54 LITERALS      26 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/ng.826 schema:about N09a0232bde684dfdaa18a48105aecf2f
    2 N11b6e660f6234cb0aff1a13a0ff211de
    3 N11c08f9389d447a1a5f3a6abb7adedc1
    4 N13848f9adfde4fcba212083d006ebc6e
    5 N17171965309a4e4d855c4adc24313ab5
    6 N6954e151e12348ea80cb1b7cdd678ef4
    7 N6f5df7627cb54226b8c11f350a6171c5
    8 N7ba124ebe1224b3cb3d1f144541608b9
    9 N814b84f16ae84c4f97432a82cbe694e4
    10 N82b51860705c40028392c356156ed037
    11 N8e96dad099434183bc20696f0f4df4ac
    12 N9d1c008c895c42fb9b350aacc448b502
    13 N9f65b16fbda44ec98cfd383af4f3b752
    14 Na0245d7c9c4a4dd2a02563fd0e158a2f
    15 Na07c75056cb2432da0f810e411ecb9ef
    16 Nac6d5acd52524267a41871d36e24ed9b
    17 Ncefdd531e46d4c549657cce84a7e71db
    18 Nd002e18017ca470e8b279553991dcc9f
    19 Nef94a033a72445a0b41a9a0b679c760c
    20 anzsrc-for:06
    21 anzsrc-for:0604
    22 schema:author N8952a749c22b422d99a19f7193bb0df2
    23 schema:citation sg:pub.10.1038/79951
    24 sg:pub.10.1038/nature04370
    25 sg:pub.10.1038/nature07883
    26 sg:pub.10.1038/nature08895
    27 sg:pub.10.1038/ng.366
    28 sg:pub.10.1038/ng.594
    29 sg:pub.10.1038/ng.756
    30 sg:pub.10.1038/ng.97
    31 sg:pub.10.1038/ng2039
    32 sg:pub.10.1038/nrg2774
    33 sg:pub.10.1186/1471-213x-2-4
    34 schema:datePublished 2011-05-08
    35 schema:datePublishedReg 2011-05-08
    36 schema:description Tania Attié-Bitach and colleagues report that biallelic mutations in KIF7, a component of the Hedgehog signaling pathway, cause hydrolethalus and acrocallosal syndromes. They also present evidence that heterozygous KIF7 mutations contribute to the allelic load and phenotypic spectrum of other cilia disorders.
    37 schema:genre article
    38 schema:inLanguage en
    39 schema:isAccessibleForFree true
    40 schema:isPartOf Nce9c3209720246228e27a2c8f60d8962
    41 Neecffd8c2f53400083e8970ed3114187
    42 sg:journal.1103138
    43 schema:keywords Kif7
    44 acrocallosal syndrome
    45 allelic load
    46 biallelic mutations
    47 cilia disorders
    48 colleagues
    49 components
    50 disorders
    51 evidence
    52 hedgehog
    53 hydrolethalus
    54 load
    55 mutations
    56 pathway
    57 phenotypic spectrum
    58 spectra
    59 syndrome
    60 schema:name KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
    61 schema:pagination 601-606
    62 schema:productId N0557cda65f7a48c8b9b631132226832c
    63 N44a6ba3b61674e8b9f17b21a9936d9e0
    64 Ned0ebc6bc2334000ab35ab585603bf28
    65 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020365937
    66 https://doi.org/10.1038/ng.826
    67 schema:sdDatePublished 2022-05-20T07:26
    68 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    69 schema:sdPublisher N6979597efd1c43d5b6bd35cc166f5db1
    70 schema:url https://doi.org/10.1038/ng.826
    71 sgo:license sg:explorer/license/
    72 sgo:sdDataset articles
    73 rdf:type schema:ScholarlyArticle
    74 N0557cda65f7a48c8b9b631132226832c schema:name doi
    75 schema:value 10.1038/ng.826
    76 rdf:type schema:PropertyValue
    77 N09a0232bde684dfdaa18a48105aecf2f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    78 schema:name Adolescent
    79 rdf:type schema:DefinedTerm
    80 N0b1280f816c042c395b93b6a68a82067 rdf:first sg:person.0630133713.34
    81 rdf:rest Na46004ec8c9844419315c411dca915e1
    82 N11b6e660f6234cb0aff1a13a0ff211de schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    83 schema:name Cerebral Ventricles
    84 rdf:type schema:DefinedTerm
    85 N11c08f9389d447a1a5f3a6abb7adedc1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    86 schema:name Infant
    87 rdf:type schema:DefinedTerm
    88 N13848f9adfde4fcba212083d006ebc6e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    89 schema:name Hydrocephalus
    90 rdf:type schema:DefinedTerm
    91 N17171965309a4e4d855c4adc24313ab5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    92 schema:name Female
    93 rdf:type schema:DefinedTerm
    94 N1b178016a85d4bcfbfe95678e6fec414 rdf:first sg:person.01225475260.74
    95 rdf:rest Ndb66e68e78954c3e9bb527d872988e92
    96 N1bfe7513c3314809af84325b0d47e56a rdf:first sg:person.01177147171.55
    97 rdf:rest N8e1de1877ff14876899451a8ce21514e
    98 N23e79a1e23904a4eb43a7be98d25bb47 rdf:first sg:person.01117331017.35
    99 rdf:rest Nfda11af738404259b504cac129a62588
    100 N3894a8ce29ea4bbb9bcac046a73d4172 schema:affiliation grid-institutes:None
    101 schema:familyName Buzas
    102 schema:givenName Daniela
    103 rdf:type schema:Person
    104 N38aa49464c8c44c8b91903b94424d982 rdf:first sg:person.0747515131.18
    105 rdf:rest N5f3919a6aa564cc2a359027a5b2f5b88
    106 N3f5ed3bc6ceb4139894d7bb0b2d07e55 rdf:first sg:person.01357306436.78
    107 rdf:rest N5c22ed20a2df4931aedd0a7d5237640f
    108 N44a6ba3b61674e8b9f17b21a9936d9e0 schema:name dimensions_id
    109 schema:value pub.1020365937
    110 rdf:type schema:PropertyValue
    111 N46bc8e2b6cbe4a07943e694dc0fb2d91 rdf:first sg:person.01311173236.55
    112 rdf:rest N3f5ed3bc6ceb4139894d7bb0b2d07e55
    113 N5c22ed20a2df4931aedd0a7d5237640f rdf:first sg:person.016673155264.10
    114 rdf:rest Nf7251f9602ff4d7f9d98e4ef419335bb
    115 N5f3919a6aa564cc2a359027a5b2f5b88 rdf:first Nf3582a5cede9476998304eb5742cccdb
    116 rdf:rest N5fb2c4509e48453080098b861267e014
    117 N5f43b8369b34478ea2de71d50952407d rdf:first sg:person.01244712422.57
    118 rdf:rest Nb61c3c9a9c7e49e2930a624a096efee2
    119 N5fb2c4509e48453080098b861267e014 rdf:first sg:person.01117305423.00
    120 rdf:rest N1bfe7513c3314809af84325b0d47e56a
    121 N67e086a5a6bd4e1284b85bb745ffce14 rdf:first sg:person.01351273155.01
    122 rdf:rest Ncfbc861d11f3491886ef330e1884b6f0
    123 N6954e151e12348ea80cb1b7cdd678ef4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    124 schema:name Child
    125 rdf:type schema:DefinedTerm
    126 N6979597efd1c43d5b6bd35cc166f5db1 schema:name Springer Nature - SN SciGraph project
    127 rdf:type schema:Organization
    128 N6f5df7627cb54226b8c11f350a6171c5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    129 schema:name Acrocallosal Syndrome
    130 rdf:type schema:DefinedTerm
    131 N746776c2f49448aebb625f5bf169aed9 rdf:first sg:person.013055414007.57
    132 rdf:rest Nf869cbae938f43e78cbf74a9e6ca2e77
    133 N7ba124ebe1224b3cb3d1f144541608b9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    134 schema:name Consanguinity
    135 rdf:type schema:DefinedTerm
    136 N7c9134a0a7ae490e8851311e8597d3ab rdf:first sg:person.01004742043.29
    137 rdf:rest N5f43b8369b34478ea2de71d50952407d
    138 N7d0c949b7d094c9ca83313df0cbf42f8 schema:affiliation grid-institutes:grid.411049.9
    139 schema:familyName Bennett
    140 schema:givenName Christopher L
    141 rdf:type schema:Person
    142 N814b84f16ae84c4f97432a82cbe694e4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    143 schema:name Hand Deformities, Congenital
    144 rdf:type schema:DefinedTerm
    145 N8201d454ada6473b8690e3bef300a5a8 rdf:first sg:person.01056047406.31
    146 rdf:rest Nea4b4b58407547cda4956c27f156e048
    147 N82b51860705c40028392c356156ed037 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    148 schema:name Male
    149 rdf:type schema:DefinedTerm
    150 N83f73d43152c48ab94cb38a058dc2f59 rdf:first sg:person.01303323422.05
    151 rdf:rest N46bc8e2b6cbe4a07943e694dc0fb2d91
    152 N8952a749c22b422d99a19f7193bb0df2 rdf:first sg:person.0662217443.29
    153 rdf:rest N746776c2f49448aebb625f5bf169aed9
    154 N8e1de1877ff14876899451a8ce21514e rdf:first sg:person.01347423620.16
    155 rdf:rest Nb879299221c44816adeedf33d2a0e322
    156 N8e96dad099434183bc20696f0f4df4ac schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    157 schema:name Magnetic Resonance Imaging
    158 rdf:type schema:DefinedTerm
    159 N95986f41506d455eb26eb279f0488550 rdf:first sg:person.013142226242.77
    160 rdf:rest Nfffc7b6c67dd435ab50656ee9c27e9d6
    161 N961b93708f7a40b7b1d8d8aab90f4645 schema:affiliation grid-institutes:None
    162 schema:familyName Gomes
    163 schema:givenName Céline
    164 rdf:type schema:Person
    165 N97e67f2c10574f109b0f0bea57a2c127 rdf:first sg:person.0640546516.74
    166 rdf:rest Nec9ce961ba964606b05c5ba5d12a981d
    167 N9cd556e31e804e529b77be929e8acfba rdf:first N9e9f94a311ec4479ad55d039531fb049
    168 rdf:rest N0b1280f816c042c395b93b6a68a82067
    169 N9d1c008c895c42fb9b350aacc448b502 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    170 schema:name Hedgehog Proteins
    171 rdf:type schema:DefinedTerm
    172 N9e9f94a311ec4479ad55d039531fb049 schema:affiliation grid-institutes:None
    173 schema:familyName Colin
    174 schema:givenName Estelle
    175 rdf:type schema:Person
    176 N9f65b16fbda44ec98cfd383af4f3b752 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    177 schema:name Kinesins
    178 rdf:type schema:DefinedTerm
    179 Na0245d7c9c4a4dd2a02563fd0e158a2f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    180 schema:name Mutation
    181 rdf:type schema:DefinedTerm
    182 Na07c75056cb2432da0f810e411ecb9ef schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    183 schema:name Child, Preschool
    184 rdf:type schema:DefinedTerm
    185 Na44615b6db6f49dd82177679083baf96 rdf:first Nc4bb761df61e44ef9f60f614eb582a3c
    186 rdf:rest Nc3212e1a2eb043139a310041f2ce8635
    187 Na46004ec8c9844419315c411dca915e1 rdf:first sg:person.01324351512.85
    188 rdf:rest N38aa49464c8c44c8b91903b94424d982
    189 Nac6d5acd52524267a41871d36e24ed9b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    190 schema:name Cilia
    191 rdf:type schema:DefinedTerm
    192 Nad8688bead9a4df6b26b9687f565c577 rdf:first sg:person.01144102302.35
    193 rdf:rest N1b178016a85d4bcfbfe95678e6fec414
    194 Nb61c3c9a9c7e49e2930a624a096efee2 rdf:first sg:person.07410601737.16
    195 rdf:rest Ne229ab7c969142608742ace401b075d7
    196 Nb879299221c44816adeedf33d2a0e322 rdf:first sg:person.01064043521.41
    197 rdf:rest N67e086a5a6bd4e1284b85bb745ffce14
    198 Nc3212e1a2eb043139a310041f2ce8635 rdf:first sg:person.011552072365.82
    199 rdf:rest N8201d454ada6473b8690e3bef300a5a8
    200 Nc4bb761df61e44ef9f60f614eb582a3c schema:affiliation grid-institutes:grid.508487.6
    201 schema:familyName Nitschke
    202 schema:givenName Patrick
    203 rdf:type schema:Person
    204 Nc64da9e76f724f7381988da755824132 rdf:first sg:person.01354615474.24
    205 rdf:rest N9cd556e31e804e529b77be929e8acfba
    206 Ncbe248a9c85f4959ab6c14478597a0d0 rdf:first sg:person.01131140550.50
    207 rdf:rest Nc64da9e76f724f7381988da755824132
    208 Nce9c3209720246228e27a2c8f60d8962 schema:volumeNumber 43
    209 rdf:type schema:PublicationVolume
    210 Ncefdd531e46d4c549657cce84a7e71db schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    211 schema:name Pedigree
    212 rdf:type schema:DefinedTerm
    213 Ncfbc861d11f3491886ef330e1884b6f0 rdf:first sg:person.01066263150.73
    214 rdf:rest N7c9134a0a7ae490e8851311e8597d3ab
    215 Nd002e18017ca470e8b279553991dcc9f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    216 schema:name Humans
    217 rdf:type schema:DefinedTerm
    218 Ndb66e68e78954c3e9bb527d872988e92 rdf:first N3894a8ce29ea4bbb9bcac046a73d4172
    219 rdf:rest Nf5af80934fb74d3db6267a6979f819eb
    220 Ne229ab7c969142608742ace401b075d7 rdf:first sg:person.0636115230.62
    221 rdf:rest rdf:nil
    222 Nea4b4b58407547cda4956c27f156e048 rdf:first sg:person.01161470727.47
    223 rdf:rest Ncbe248a9c85f4959ab6c14478597a0d0
    224 Nec9ce961ba964606b05c5ba5d12a981d rdf:first N7d0c949b7d094c9ca83313df0cbf42f8
    225 rdf:rest N83f73d43152c48ab94cb38a058dc2f59
    226 Ned0ebc6bc2334000ab35ab585603bf28 schema:name pubmed_id
    227 schema:value 21552264
    228 rdf:type schema:PropertyValue
    229 Neecffd8c2f53400083e8970ed3114187 schema:issueNumber 6
    230 rdf:type schema:PublicationIssue
    231 Nef94a033a72445a0b41a9a0b679c760c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    232 schema:name Heart Defects, Congenital
    233 rdf:type schema:DefinedTerm
    234 Nf3582a5cede9476998304eb5742cccdb schema:affiliation grid-institutes:grid.462098.1
    235 schema:familyName Schmitt
    236 schema:givenName Alain
    237 rdf:type schema:Person
    238 Nf5af80934fb74d3db6267a6979f819eb rdf:first N961b93708f7a40b7b1d8d8aab90f4645
    239 rdf:rest N97e67f2c10574f109b0f0bea57a2c127
    240 Nf7251f9602ff4d7f9d98e4ef419335bb rdf:first sg:person.01010062352.83
    241 rdf:rest N23e79a1e23904a4eb43a7be98d25bb47
    242 Nf869cbae938f43e78cbf74a9e6ca2e77 rdf:first sg:person.0721707065.72
    243 rdf:rest N95986f41506d455eb26eb279f0488550
    244 Nfda11af738404259b504cac129a62588 rdf:first sg:person.01103634254.33
    245 rdf:rest Na44615b6db6f49dd82177679083baf96
    246 Nfffc7b6c67dd435ab50656ee9c27e9d6 rdf:first sg:person.01157067411.76
    247 rdf:rest Nad8688bead9a4df6b26b9687f565c577
    248 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    249 schema:name Biological Sciences
    250 rdf:type schema:DefinedTerm
    251 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    252 schema:name Genetics
    253 rdf:type schema:DefinedTerm
    254 sg:grant.2498792 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.826
    255 rdf:type schema:MonetaryGrant
    256 sg:grant.2499110 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.826
    257 rdf:type schema:MonetaryGrant
    258 sg:grant.2526674 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.826
    259 rdf:type schema:MonetaryGrant
    260 sg:grant.2559380 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.826
    261 rdf:type schema:MonetaryGrant
    262 sg:grant.2773239 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.826
    263 rdf:type schema:MonetaryGrant
    264 sg:grant.4117163 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.826
    265 rdf:type schema:MonetaryGrant
    266 sg:journal.1103138 schema:issn 1061-4036
    267 1546-1718
    268 schema:name Nature Genetics
    269 schema:publisher Springer Nature
    270 rdf:type schema:Periodical
    271 sg:person.01004742043.29 schema:affiliation grid-institutes:grid.462844.8
    272 schema:familyName Gonzales
    273 schema:givenName Marie
    274 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01004742043.29
    275 rdf:type schema:Person
    276 sg:person.01010062352.83 schema:affiliation grid-institutes:grid.412134.1
    277 schema:familyName Pruvost
    278 schema:givenName Solenn
    279 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01010062352.83
    280 rdf:type schema:Person
    281 sg:person.01056047406.31 schema:affiliation grid-institutes:grid.31151.37
    282 schema:familyName Thauvin-Robinet
    283 schema:givenName Christel
    284 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01056047406.31
    285 rdf:type schema:Person
    286 sg:person.01064043521.41 schema:affiliation grid-institutes:grid.462844.8
    287 schema:familyName Siffroi
    288 schema:givenName Jean-Pierre
    289 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01064043521.41
    290 rdf:type schema:Person
    291 sg:person.01066263150.73 schema:affiliation grid-institutes:grid.414179.e
    292 schema:familyName Katsanis
    293 schema:givenName Nicholas
    294 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01066263150.73
    295 rdf:type schema:Person
    296 sg:person.01103634254.33 schema:affiliation grid-institutes:grid.14442.37
    297 schema:familyName Boduroglu
    298 schema:givenName Koray
    299 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01103634254.33
    300 rdf:type schema:Person
    301 sg:person.01117305423.00 schema:affiliation grid-institutes:grid.508487.6
    302 schema:familyName Goudin
    303 schema:givenName Nicolas
    304 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01117305423.00
    305 rdf:type schema:Person
    306 sg:person.01117331017.35 schema:affiliation grid-institutes:grid.14442.37
    307 schema:familyName Utine
    308 schema:givenName Gulen Eda
    309 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01117331017.35
    310 rdf:type schema:Person
    311 sg:person.01131140550.50 schema:affiliation grid-institutes:grid.412134.1
    312 schema:familyName Cormier-Daire
    313 schema:givenName Valérie
    314 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01131140550.50
    315 rdf:type schema:Person
    316 sg:person.01144102302.35 schema:affiliation grid-institutes:grid.411049.9
    317 schema:familyName Ogur
    318 schema:givenName Gönül
    319 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01144102302.35
    320 rdf:type schema:Person
    321 sg:person.011552072365.82 schema:affiliation grid-institutes:None
    322 schema:familyName Fertitta
    323 schema:givenName Laura
    324 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011552072365.82
    325 rdf:type schema:Person
    326 sg:person.01157067411.76 schema:affiliation grid-institutes:grid.14442.37
    327 schema:familyName Alanay
    328 schema:givenName Yasemin
    329 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01157067411.76
    330 rdf:type schema:Person
    331 sg:person.01161470727.47 schema:affiliation grid-institutes:grid.412134.1
    332 schema:familyName Munnich
    333 schema:givenName Arnold
    334 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01161470727.47
    335 rdf:type schema:Person
    336 sg:person.01177147171.55 schema:affiliation grid-institutes:grid.412134.1
    337 schema:familyName Lyonnet
    338 schema:givenName Stanislas
    339 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01177147171.55
    340 rdf:type schema:Person
    341 sg:person.01225475260.74 schema:affiliation grid-institutes:grid.14442.37
    342 schema:familyName Uz
    343 schema:givenName Elif
    344 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225475260.74
    345 rdf:type schema:Person
    346 sg:person.01244712422.57 schema:affiliation grid-institutes:grid.412134.1
    347 schema:familyName Vekemans
    348 schema:givenName Michel
    349 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01244712422.57
    350 rdf:type schema:Person
    351 sg:person.01303323422.05 schema:affiliation grid-institutes:grid.412134.1
    352 schema:familyName Elkhartoufi
    353 schema:givenName Nadia
    354 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01303323422.05
    355 rdf:type schema:Person
    356 sg:person.013055414007.57 schema:affiliation grid-institutes:grid.508487.6
    357 schema:familyName Thomas
    358 schema:givenName Sophie
    359 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013055414007.57
    360 rdf:type schema:Person
    361 sg:person.01311173236.55 schema:affiliation grid-institutes:grid.414474.6
    362 schema:familyName Frison
    363 schema:givenName Marie-Hélène Saint
    364 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01311173236.55
    365 rdf:type schema:Person
    366 sg:person.013142226242.77 schema:affiliation grid-institutes:grid.189509.c
    367 schema:familyName Davis
    368 schema:givenName Erica E
    369 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013142226242.77
    370 rdf:type schema:Person
    371 sg:person.01324351512.85 schema:affiliation grid-institutes:grid.412134.1
    372 schema:familyName Bole-Feysot
    373 schema:givenName Christine
    374 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01324351512.85
    375 rdf:type schema:Person
    376 sg:person.01347423620.16 schema:affiliation grid-institutes:grid.412134.1
    377 schema:familyName Encha-Razavi
    378 schema:givenName Férechté
    379 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01347423620.16
    380 rdf:type schema:Person
    381 sg:person.01351273155.01 schema:affiliation grid-institutes:grid.266190.a
    382 schema:familyName Winey
    383 schema:givenName Mark
    384 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01351273155.01
    385 rdf:type schema:Person
    386 sg:person.01354615474.24 schema:affiliation grid-institutes:grid.7177.6
    387 schema:familyName Hennekam
    388 schema:givenName Raoul
    389 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01354615474.24
    390 rdf:type schema:Person
    391 sg:person.01357306436.78 schema:affiliation grid-institutes:None
    392 schema:familyName Rigonnot
    393 schema:givenName Luc
    394 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01357306436.78
    395 rdf:type schema:Person
    396 sg:person.016673155264.10 schema:affiliation grid-institutes:grid.462844.8
    397 schema:familyName Joyé
    398 schema:givenName Nicole
    399 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016673155264.10
    400 rdf:type schema:Person
    401 sg:person.0630133713.34 schema:affiliation grid-institutes:grid.14442.37
    402 schema:familyName Akarsu
    403 schema:givenName Nurten Ayse
    404 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0630133713.34
    405 rdf:type schema:Person
    406 sg:person.0636115230.62 schema:affiliation grid-institutes:grid.412134.1
    407 schema:familyName Attié-Bitach
    408 schema:givenName Tania
    409 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0636115230.62
    410 rdf:type schema:Person
    411 sg:person.0640546516.74 schema:affiliation grid-institutes:grid.413776.0
    412 schema:familyName Patrier
    413 schema:givenName Sophie
    414 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0640546516.74
    415 rdf:type schema:Person
    416 sg:person.0662217443.29 schema:affiliation grid-institutes:grid.508487.6
    417 schema:familyName Putoux
    418 schema:givenName Audrey
    419 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0662217443.29
    420 rdf:type schema:Person
    421 sg:person.0721707065.72 schema:affiliation grid-institutes:grid.10417.33
    422 schema:familyName Coene
    423 schema:givenName Karlien L M
    424 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0721707065.72
    425 rdf:type schema:Person
    426 sg:person.07410601737.16 schema:affiliation grid-institutes:grid.83440.3b
    427 schema:familyName Beales
    428 schema:givenName Philip L
    429 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07410601737.16
    430 rdf:type schema:Person
    431 sg:person.0747515131.18 schema:affiliation grid-institutes:grid.508487.6
    432 schema:familyName Cagnard
    433 schema:givenName Nicolas
    434 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747515131.18
    435 rdf:type schema:Person
    436 sg:pub.10.1038/79951 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007182261
    437 https://doi.org/10.1038/79951
    438 rdf:type schema:CreativeWork
    439 sg:pub.10.1038/nature04370 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015112636
    440 https://doi.org/10.1038/nature04370
    441 rdf:type schema:CreativeWork
    442 sg:pub.10.1038/nature07883 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047609318
    443 https://doi.org/10.1038/nature07883
    444 rdf:type schema:CreativeWork
    445 sg:pub.10.1038/nature08895 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016398543
    446 https://doi.org/10.1038/nature08895
    447 rdf:type schema:CreativeWork
    448 sg:pub.10.1038/ng.366 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053591273
    449 https://doi.org/10.1038/ng.366
    450 rdf:type schema:CreativeWork
    451 sg:pub.10.1038/ng.594 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031002347
    452 https://doi.org/10.1038/ng.594
    453 rdf:type schema:CreativeWork
    454 sg:pub.10.1038/ng.756 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046869860
    455 https://doi.org/10.1038/ng.756
    456 rdf:type schema:CreativeWork
    457 sg:pub.10.1038/ng.97 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038326482
    458 https://doi.org/10.1038/ng.97
    459 rdf:type schema:CreativeWork
    460 sg:pub.10.1038/ng2039 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033385115
    461 https://doi.org/10.1038/ng2039
    462 rdf:type schema:CreativeWork
    463 sg:pub.10.1038/nrg2774 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047735807
    464 https://doi.org/10.1038/nrg2774
    465 rdf:type schema:CreativeWork
    466 sg:pub.10.1186/1471-213x-2-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034322166
    467 https://doi.org/10.1186/1471-213x-2-4
    468 rdf:type schema:CreativeWork
    469 grid-institutes:None schema:alternateName INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France
    470 Service de Gynécologie-Obstétrique, Centre Hospitalier (CH) Sud Francilien, Evry, France
    471 Service de Génétique, Hôpital d'Angers, Angers, France
    472 schema:name INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France
    473 Service de Gynécologie-Obstétrique, Centre Hospitalier (CH) Sud Francilien, Evry, France
    474 Service de Génétique, Hôpital d'Angers, Angers, France
    475 rdf:type schema:Organization
    476 grid-institutes:grid.10417.33 schema:alternateName Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    477 schema:name Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    478 rdf:type schema:Organization
    479 grid-institutes:grid.14442.37 schema:alternateName Department of Medical Genetics, Gene Mapping Laboratory, Hacettepe University Medical Faculty, Ankara, Turkey
    480 Department of Pediatrics, Pediatric Genetics Unit, Hacettepe University Medical Faculty, Ankara, Turkey
    481 schema:name Department of Medical Genetics, Gene Mapping Laboratory, Hacettepe University Medical Faculty, Ankara, Turkey
    482 Department of Pediatrics, Pediatric Genetics Unit, Hacettepe University Medical Faculty, Ankara, Turkey
    483 rdf:type schema:Organization
    484 grid-institutes:grid.189509.c schema:alternateName Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA
    485 schema:name Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA
    486 Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA
    487 rdf:type schema:Organization
    488 grid-institutes:grid.266190.a schema:alternateName Molecular, Cellular and Developmental Biology, University of Colorado at Boulder, Boulder, Colorado, USA
    489 schema:name Molecular, Cellular and Developmental Biology, University of Colorado at Boulder, Boulder, Colorado, USA
    490 rdf:type schema:Organization
    491 grid-institutes:grid.31151.37 schema:alternateName Service de Génétique, CHU de Dijon, Dijon, France
    492 schema:name Service de Génétique, CHU de Dijon, Dijon, France
    493 rdf:type schema:Organization
    494 grid-institutes:grid.411049.9 schema:alternateName Department of Medical/Pediatric Genetics, Ondokuz Mayis University, Samsun, Turkey
    495 schema:name Department of Medical/Pediatric Genetics, Ondokuz Mayis University, Samsun, Turkey
    496 rdf:type schema:Organization
    497 grid-institutes:grid.412134.1 schema:alternateName Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
    498 Genomic Core Facility, Imagine Fondation, Hôpital Necker-Enfants Malades, Paris, France
    499 schema:name Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
    500 Genomic Core Facility, Imagine Fondation, Hôpital Necker-Enfants Malades, Paris, France
    501 INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France
    502 Université René Descartes, Paris, France
    503 rdf:type schema:Organization
    504 grid-institutes:grid.413776.0 schema:alternateName Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
    505 schema:name Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
    506 rdf:type schema:Organization
    507 grid-institutes:grid.414179.e schema:alternateName Department of Cell Biology, Duke University Medical Center, Durham, North Carolina, USA
    508 schema:name Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA
    509 Department of Cell Biology, Duke University Medical Center, Durham, North Carolina, USA
    510 rdf:type schema:Organization
    511 grid-institutes:grid.414474.6 schema:alternateName Service d'Anatomie et Cytologie Pathologiques, CH Victor Dupouy, Argenteuil, France
    512 schema:name Service d'Anatomie et Cytologie Pathologiques, CH Victor Dupouy, Argenteuil, France
    513 rdf:type schema:Organization
    514 grid-institutes:grid.462098.1 schema:alternateName CNRS UMR 8104, Institut Cochin, Université Paris Descartes, Paris, France
    515 schema:name CNRS UMR 8104, Institut Cochin, Université Paris Descartes, Paris, France
    516 rdf:type schema:Organization
    517 grid-institutes:grid.462844.8 schema:alternateName Université Pierre et Marie Curie, Paris, France
    518 schema:name Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
    519 Université Pierre et Marie Curie, Paris, France
    520 rdf:type schema:Organization
    521 grid-institutes:grid.508487.6 schema:alternateName IFR 94, Faculté de Médecine Necker, Paris, France
    522 Service de Bioinformatique, Université Paris Descartes, Paris, France
    523 Université René Descartes, Paris, France
    524 schema:name IFR 94, Faculté de Médecine Necker, Paris, France
    525 INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France
    526 Service de Bioinformatique, Université Paris Descartes, Paris, France
    527 Université René Descartes, Paris, France
    528 rdf:type schema:Organization
    529 grid-institutes:grid.7177.6 schema:alternateName Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    530 schema:name Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    531 rdf:type schema:Organization
    532 grid-institutes:grid.83440.3b schema:alternateName Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London, UK
    533 schema:name Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London, UK
    534 rdf:type schema:Organization
     




    Preview window. Press ESC to close (or click here)


    ...