Vincent Laugel

Ontology type: schema:Person     

Person Info





Publications in SciGraph latest 50 shown

  • 2018-04 Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-01 Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-12 Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing in ORPHANET JOURNAL OF RARE DISEASES
  • 2016-07 Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases in JOURNAL OF NEUROLOGY
  • 2013-12 A possible cranio-oro-facial phenotype in Cockayne syndrome in ORPHANET JOURNAL OF RARE DISEASES
  • 2012-09 Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2012-08 Next generation sequencing for molecular diagnosis of neuromuscular diseases in ACTA NEUROPATHOLOGICA
  • 2012-06 Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-02 Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies in ACTA NEUROPATHOLOGICA
  • 2010-02 Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management in NEUROGENETICS
  • 2008-05 Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates in EUROPEAN JOURNAL OF PEDIATRICS
  • 2008-03 Deletion of 5′ sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2003-10 Measurement of hydrostatic intraperitoneal pressure: a useful tool for the improvement of dialysis dose prescription in PEDIATRIC NEPHROLOGY
  • 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": "", 
        "affiliation": [
            "affiliation": {
              "id": "", 
              "type": "Organization"
            "isCurrent": true, 
            "type": "OrganizationRole"
            "id": "", 
            "type": "Organization"
            "id": "", 
            "type": "Organization"
            "id": "", 
            "type": "Organization"
            "id": "", 
            "type": "Organization"
        "familyName": "Laugel", 
        "givenName": "Vincent", 
        "id": "sg:person.0745530030.53", 
        "sameAs": [
        "sdDataset": "persons", 
        "sdDatePublished": "2019-03-07T14:44", 
        "sdLicense": "", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        "sdSource": "s3://com-uberresearch-data-dimensions-researchers-20181010/20181011/dim_researchers/base/researchers_484.json", 
        "type": "Person"

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


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

    curl -H 'Accept: application/ld+json' ''

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

    curl -H 'Accept: application/n-triples' ''

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' ''

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

    curl -H 'Accept: application/rdf+xml' ''


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

    24 TRIPLES      10 PREDICATES      15 URIs      7 LITERALS      2 BLANK NODES

    Subject Predicate Object
    1 sg:person.0745530030.53 schema:affiliation N9903f77f6b574c47a896bfa36698a447
    6 schema:familyName Laugel
    7 schema:givenName Vincent
    8 schema:sameAs
    9 schema:sdDatePublished 2019-03-07T14:44
    10 schema:sdLicense
    11 schema:sdPublisher N5ccc7481685a4725bd23391d739e91b7
    12 sgo:license sg:explorer/license/
    13 sgo:sdDataset persons
    14 rdf:type schema:Person
    15 N5ccc7481685a4725bd23391d739e91b7 schema:name Springer Nature - SN SciGraph project
    16 rdf:type schema:Organization
    17 N9903f77f6b574c47a896bfa36698a447 schema:affiliation
    18 sgo:isCurrent true
    19 rdf:type schema:OrganizationRole
    20 schema:Organization
    21 schema:Organization
    22 schema:Organization
    23 schema:Organization
    24 schema:Organization

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