CUGC for Simpson-Golabi-Behmel syndrome (SGBS) View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-01-25

AUTHORS

Marie-Laure Vuillaume, Marie-Pierre Moizard, Alessandra Baumer, Edouard Cottereau, Frédéric Brioude, Anita Rauch, Annick Toutain

ABSTRACT

Name of the disease (Synonyms):Simpson-Golabi-Behmel syndrome (SGBS).OMIM# of the disease:312870.Name of the analysed genes or DNA/chromosome segments:GPC3.OMIM# of the gene(s):300037.Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the GPC3 gene(s) in⊠diagnostic,☐predictive and⊠prenatal settings and for⊠risk assessment in relatives.

PAGES

663-668

References to SciGraph publications

  • 2014-09-20. Simpson-Golabi-Behmel syndrome types I and II in ORPHANET JOURNAL OF RARE DISEASES
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41431-019-0339-z

    DOI

    http://dx.doi.org/10.1038/s41431-019-0339-z

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1111662137

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30683921


    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": "Abnormalities, Multiple", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Arrhythmias, Cardiac", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Female", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Diseases, X-Linked", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Predisposition to Disease", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Testing", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Gigantism", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Glypicans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Heart Defects, Congenital", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Intellectual Disability", 
            "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": "Phenotype", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "UMR 1253, iBrain, Universit\u00e9 de Tours, INSERM, Tours, France", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Service de G\u00e9n\u00e9tique, Centre Hospitalier Universitaire, Tours, France", 
                "UMR 1253, iBrain, Universit\u00e9 de Tours, INSERM, Tours, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Vuillaume", 
            "givenName": "Marie-Laure", 
            "id": "sg:person.01350277415.81", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01350277415.81"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "UMR 1253, iBrain, Universit\u00e9 de Tours, INSERM, Tours, France", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Service de G\u00e9n\u00e9tique, Centre Hospitalier Universitaire, Tours, France", 
                "UMR 1253, iBrain, Universit\u00e9 de Tours, INSERM, Tours, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Moizard", 
            "givenName": "Marie-Pierre", 
            "id": "sg:person.01040406652.92", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01040406652.92"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland", 
              "id": "http://www.grid.ac/institutes/grid.7400.3", 
              "name": [
                "Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Baumer", 
            "givenName": "Alessandra", 
            "id": "sg:person.0734137751.05", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0734137751.05"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Service de G\u00e9n\u00e9tique, Centre Hospitalier Universitaire, Tours, France", 
              "id": "http://www.grid.ac/institutes/grid.411167.4", 
              "name": [
                "Service de G\u00e9n\u00e9tique, Centre Hospitalier Universitaire, Tours, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Cottereau", 
            "givenName": "Edouard", 
            "id": "sg:person.01323075036.55", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01323075036.55"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Sorbonne Universit\u00e9, INSERM UMR_S938 Centre de Recherche Saint-Antoine, AP-HP H\u00f4pital Trousseau, Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.462844.8", 
              "name": [
                "Explorations Fonctionnelles Endocriniennes, APHP, H\u00f4pital Trousseau, Paris, France", 
                "Sorbonne Universit\u00e9, INSERM UMR_S938 Centre de Recherche Saint-Antoine, AP-HP H\u00f4pital Trousseau, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Brioude", 
            "givenName": "Fr\u00e9d\u00e9ric", 
            "id": "sg:person.01235231623.90", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01235231623.90"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland", 
              "id": "http://www.grid.ac/institutes/grid.7400.3", 
              "name": [
                "Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Rauch", 
            "givenName": "Anita", 
            "id": "sg:person.0633427323.43", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0633427323.43"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "UMR 1253, iBrain, Universit\u00e9 de Tours, INSERM, Tours, France", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Service de G\u00e9n\u00e9tique, Centre Hospitalier Universitaire, Tours, France", 
                "UMR 1253, iBrain, Universit\u00e9 de Tours, INSERM, Tours, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Toutain", 
            "givenName": "Annick", 
            "id": "sg:person.0717621215.12", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717621215.12"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1186/s13023-014-0138-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024183613", 
              "https://doi.org/10.1186/s13023-014-0138-0"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2019-01-25", 
        "datePublishedReg": "2019-01-25", 
        "description": "Name of the disease (Synonyms):Simpson-Golabi-Behmel syndrome (SGBS).OMIM# of the disease:312870.Name of the analysed genes or DNA/chromosome segments:GPC3.OMIM# of the gene(s):300037.Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the GPC3 gene(s) in\u22a0diagnostic,\u2610predictive and\u22a0prenatal settings and for\u22a0risk assessment in relatives.", 
        "genre": "article", 
        "id": "sg:pub.10.1038/s41431-019-0339-z", 
        "inLanguage": "en", 
        "isAccessibleForFree": true, 
        "isPartOf": [
          {
            "id": "sg:journal.1103410", 
            "issn": [
              "1018-4813", 
              "1476-5438"
            ], 
            "name": "European Journal of Human Genetics", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "4", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "27"
          }
        ], 
        "keywords": [
          "DNA/chromosome segments", 
          "chromosome segments", 
          "DNA-based testing", 
          "Simpson-Golabi", 
          "Behmel syndrome", 
          "clinical utility", 
          "clinical validity", 
          "syndrome", 
          "genes", 
          "CuGCs", 
          "mutations", 
          "OMIM", 
          "disease", 
          "GPC3", 
          "relatives", 
          "setting", 
          "assessment", 
          "testing", 
          "segments", 
          "utility", 
          "name", 
          "validity", 
          "Golabi-Behmel syndrome"
        ], 
        "name": "CUGC for Simpson-Golabi-Behmel syndrome (SGBS)", 
        "pagination": "663-668", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1111662137"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/s41431-019-0339-z"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "30683921"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/s41431-019-0339-z", 
          "https://app.dimensions.ai/details/publication/pub.1111662137"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2022-01-01T18:55", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20220101/entities/gbq_results/article/article_830.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1038/s41431-019-0339-z"
      }
    ]
     

    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/s41431-019-0339-z'

    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/s41431-019-0339-z'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41431-019-0339-z'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41431-019-0339-z'


     

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

    198 TRIPLES      22 PREDICATES      64 URIs      55 LITERALS      21 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/s41431-019-0339-z schema:about N0c37d9c1e9834958b575705578e0a571
    2 N4504ce97f95e464fa69320cb99ff0e9c
    3 N60fa172bc37847989a20825cb1636463
    4 N73f708fdda6c45508ff88b89f66d6aaf
    5 Naaeb9dccf4d4460fb8ee4a1e1307e648
    6 Nb3b9a62ca835473f88e94981e0097ab4
    7 Nbcfe912f5a3b4e3584bd4e7a6f3c298d
    8 Nd1805a9a37b74817a7c975cce0c80cb1
    9 Ne0388b21987044049ebf512837ad06ef
    10 Nebe76ccbf54340f284e7e8a46e8bec2b
    11 Nebf872a5ebed4c80bc27db255ebd2a24
    12 Ned3fcbce4d5c426c8f87f6d6c233f922
    13 Nf80e36111eb74640aa8e73063d5aacd8
    14 Nfa8ad54c8af84d658c893c22c16477a0
    15 anzsrc-for:06
    16 anzsrc-for:0604
    17 schema:author N561ae1e4821145b5a30fa95cd7fe1e77
    18 schema:citation sg:pub.10.1186/s13023-014-0138-0
    19 schema:datePublished 2019-01-25
    20 schema:datePublishedReg 2019-01-25
    21 schema:description Name of the disease (Synonyms):Simpson-Golabi-Behmel syndrome (SGBS).OMIM# of the disease:312870.Name of the analysed genes or DNA/chromosome segments:GPC3.OMIM# of the gene(s):300037.Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the GPC3 gene(s) in⊠diagnostic,☐predictive and⊠prenatal settings and for⊠risk assessment in relatives.
    22 schema:genre article
    23 schema:inLanguage en
    24 schema:isAccessibleForFree true
    25 schema:isPartOf N69bb3a87762045feb6fb7e9a1dcd134e
    26 Nc0d579affbf74876b3e61095c5c6146e
    27 sg:journal.1103410
    28 schema:keywords Behmel syndrome
    29 CuGCs
    30 DNA-based testing
    31 DNA/chromosome segments
    32 GPC3
    33 Golabi-Behmel syndrome
    34 OMIM
    35 Simpson-Golabi
    36 assessment
    37 chromosome segments
    38 clinical utility
    39 clinical validity
    40 disease
    41 genes
    42 mutations
    43 name
    44 relatives
    45 segments
    46 setting
    47 syndrome
    48 testing
    49 utility
    50 validity
    51 schema:name CUGC for Simpson-Golabi-Behmel syndrome (SGBS)
    52 schema:pagination 663-668
    53 schema:productId N2b2e820219bc458fba91a6801b2d9492
    54 N3da783fc9a5a435ebe4fd02f27111bc5
    55 N627934b04c3a4a168f62dc4e66a5f3a0
    56 schema:sameAs https://app.dimensions.ai/details/publication/pub.1111662137
    57 https://doi.org/10.1038/s41431-019-0339-z
    58 schema:sdDatePublished 2022-01-01T18:55
    59 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    60 schema:sdPublisher N10fb7442ce814dd19f21494b801b1154
    61 schema:url https://doi.org/10.1038/s41431-019-0339-z
    62 sgo:license sg:explorer/license/
    63 sgo:sdDataset articles
    64 rdf:type schema:ScholarlyArticle
    65 N090b550db74b4428a7c1326930ff3d09 rdf:first sg:person.0633427323.43
    66 rdf:rest Nf04a2a7e12404a1aa70ea281e24e70c2
    67 N0c37d9c1e9834958b575705578e0a571 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    68 schema:name Genetic Diseases, X-Linked
    69 rdf:type schema:DefinedTerm
    70 N10fb7442ce814dd19f21494b801b1154 schema:name Springer Nature - SN SciGraph project
    71 rdf:type schema:Organization
    72 N1fb27686aa2b427d97c800f010dbf4e8 rdf:first sg:person.01040406652.92
    73 rdf:rest Nf1d02cc055864720b715cf4af04a016b
    74 N2b2e820219bc458fba91a6801b2d9492 schema:name doi
    75 schema:value 10.1038/s41431-019-0339-z
    76 rdf:type schema:PropertyValue
    77 N3da783fc9a5a435ebe4fd02f27111bc5 schema:name dimensions_id
    78 schema:value pub.1111662137
    79 rdf:type schema:PropertyValue
    80 N4504ce97f95e464fa69320cb99ff0e9c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    81 schema:name Heart Defects, Congenital
    82 rdf:type schema:DefinedTerm
    83 N561ae1e4821145b5a30fa95cd7fe1e77 rdf:first sg:person.01350277415.81
    84 rdf:rest N1fb27686aa2b427d97c800f010dbf4e8
    85 N60fa172bc37847989a20825cb1636463 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    86 schema:name Female
    87 rdf:type schema:DefinedTerm
    88 N627934b04c3a4a168f62dc4e66a5f3a0 schema:name pubmed_id
    89 schema:value 30683921
    90 rdf:type schema:PropertyValue
    91 N69bb3a87762045feb6fb7e9a1dcd134e schema:volumeNumber 27
    92 rdf:type schema:PublicationVolume
    93 N73f708fdda6c45508ff88b89f66d6aaf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    94 schema:name Glypicans
    95 rdf:type schema:DefinedTerm
    96 N8bb3fc4f14cc4f288fab785ffcd8ffc8 rdf:first sg:person.01235231623.90
    97 rdf:rest N090b550db74b4428a7c1326930ff3d09
    98 Naaeb9dccf4d4460fb8ee4a1e1307e648 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    99 schema:name Genetic Testing
    100 rdf:type schema:DefinedTerm
    101 Nb24b71c84bca4cd88e595dd777931adc rdf:first sg:person.01323075036.55
    102 rdf:rest N8bb3fc4f14cc4f288fab785ffcd8ffc8
    103 Nb3b9a62ca835473f88e94981e0097ab4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    104 schema:name Mutation
    105 rdf:type schema:DefinedTerm
    106 Nbcfe912f5a3b4e3584bd4e7a6f3c298d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    107 schema:name Gigantism
    108 rdf:type schema:DefinedTerm
    109 Nc0d579affbf74876b3e61095c5c6146e schema:issueNumber 4
    110 rdf:type schema:PublicationIssue
    111 Nd1805a9a37b74817a7c975cce0c80cb1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    112 schema:name Humans
    113 rdf:type schema:DefinedTerm
    114 Ne0388b21987044049ebf512837ad06ef schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    115 schema:name Intellectual Disability
    116 rdf:type schema:DefinedTerm
    117 Nebe76ccbf54340f284e7e8a46e8bec2b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    118 schema:name Male
    119 rdf:type schema:DefinedTerm
    120 Nebf872a5ebed4c80bc27db255ebd2a24 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    121 schema:name Phenotype
    122 rdf:type schema:DefinedTerm
    123 Ned3fcbce4d5c426c8f87f6d6c233f922 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    124 schema:name Arrhythmias, Cardiac
    125 rdf:type schema:DefinedTerm
    126 Nf04a2a7e12404a1aa70ea281e24e70c2 rdf:first sg:person.0717621215.12
    127 rdf:rest rdf:nil
    128 Nf1d02cc055864720b715cf4af04a016b rdf:first sg:person.0734137751.05
    129 rdf:rest Nb24b71c84bca4cd88e595dd777931adc
    130 Nf80e36111eb74640aa8e73063d5aacd8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    131 schema:name Abnormalities, Multiple
    132 rdf:type schema:DefinedTerm
    133 Nfa8ad54c8af84d658c893c22c16477a0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    134 schema:name Genetic Predisposition to Disease
    135 rdf:type schema:DefinedTerm
    136 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    137 schema:name Biological Sciences
    138 rdf:type schema:DefinedTerm
    139 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    140 schema:name Genetics
    141 rdf:type schema:DefinedTerm
    142 sg:journal.1103410 schema:issn 1018-4813
    143 1476-5438
    144 schema:name European Journal of Human Genetics
    145 schema:publisher Springer Nature
    146 rdf:type schema:Periodical
    147 sg:person.01040406652.92 schema:affiliation grid-institutes:None
    148 schema:familyName Moizard
    149 schema:givenName Marie-Pierre
    150 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01040406652.92
    151 rdf:type schema:Person
    152 sg:person.01235231623.90 schema:affiliation grid-institutes:grid.462844.8
    153 schema:familyName Brioude
    154 schema:givenName Frédéric
    155 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01235231623.90
    156 rdf:type schema:Person
    157 sg:person.01323075036.55 schema:affiliation grid-institutes:grid.411167.4
    158 schema:familyName Cottereau
    159 schema:givenName Edouard
    160 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01323075036.55
    161 rdf:type schema:Person
    162 sg:person.01350277415.81 schema:affiliation grid-institutes:None
    163 schema:familyName Vuillaume
    164 schema:givenName Marie-Laure
    165 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01350277415.81
    166 rdf:type schema:Person
    167 sg:person.0633427323.43 schema:affiliation grid-institutes:grid.7400.3
    168 schema:familyName Rauch
    169 schema:givenName Anita
    170 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0633427323.43
    171 rdf:type schema:Person
    172 sg:person.0717621215.12 schema:affiliation grid-institutes:None
    173 schema:familyName Toutain
    174 schema:givenName Annick
    175 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717621215.12
    176 rdf:type schema:Person
    177 sg:person.0734137751.05 schema:affiliation grid-institutes:grid.7400.3
    178 schema:familyName Baumer
    179 schema:givenName Alessandra
    180 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0734137751.05
    181 rdf:type schema:Person
    182 sg:pub.10.1186/s13023-014-0138-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024183613
    183 https://doi.org/10.1186/s13023-014-0138-0
    184 rdf:type schema:CreativeWork
    185 grid-institutes:None schema:alternateName UMR 1253, iBrain, Université de Tours, INSERM, Tours, France
    186 schema:name Service de Génétique, Centre Hospitalier Universitaire, Tours, France
    187 UMR 1253, iBrain, Université de Tours, INSERM, Tours, France
    188 rdf:type schema:Organization
    189 grid-institutes:grid.411167.4 schema:alternateName Service de Génétique, Centre Hospitalier Universitaire, Tours, France
    190 schema:name Service de Génétique, Centre Hospitalier Universitaire, Tours, France
    191 rdf:type schema:Organization
    192 grid-institutes:grid.462844.8 schema:alternateName Sorbonne Université, INSERM UMR_S938 Centre de Recherche Saint-Antoine, AP-HP Hôpital Trousseau, Paris, France
    193 schema:name Explorations Fonctionnelles Endocriniennes, APHP, Hôpital Trousseau, Paris, France
    194 Sorbonne Université, INSERM UMR_S938 Centre de Recherche Saint-Antoine, AP-HP Hôpital Trousseau, Paris, France
    195 rdf:type schema:Organization
    196 grid-institutes:grid.7400.3 schema:alternateName Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland
    197 schema:name Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland
    198 rdf:type schema:Organization
     




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


    ...