About: Valérie Cormier-Daire

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

researcher

Attributes	Values
rdf:type	Item
description	forskare (sv) researcher (en) 연구원 (ko) গবেষক (bn) 研究者 (ja) chercheuse (fr) investigadora (es) ഗവേഷക (ml) araştırmacı (tr) дослідниця (uk) वैज्ञानिक (hi) изилдөөчү (ky) 研究者 (zh) հետազոտող (hy) onderzoeker (nl) researcher (en-ca) researcher (en-gb) researcher (en-us) hulumtuese (sq) ricercatrice (it) investigadora (ca) investigadora (gl) investigadora (pt) investigadora (ast)
rdfs:label	Valerie Cormier-Daire (pt) Valerie Cormier-Daire (pt-br) Valérie Cormier-Daire (en) Valérie Cormier-Daire (es) Valérie Cormier-Daire (nl) Valérie Cormier-Daire (sl) Valérie Cormier-Daire (ast)
skos:prefLabel	Valerie Cormier-Daire (pt) Valerie Cormier-Daire (pt-br) Valérie Cormier-Daire (en) Valérie Cormier-Daire (es) Valérie Cormier-Daire (nl) Valérie Cormier-Daire (sl) Valérie Cormier-Daire (ast)
name	Valerie Cormier-Daire (pt) Valerie Cormier-Daire (pt-br) Valérie Cormier-Daire (en) Valérie Cormier-Daire (es) Valérie Cormier-Daire (nl) Valérie Cormier-Daire (sl) Valérie Cormier-Daire (ast)
given name	wds:Q28321938-81E4EC77-6B25-4A34-B28A-2A511C64ECA4 wds:Q28321938-A4CCC6FA-B675-493A-9CD0-499E10B783C1
given name	Valerie Valérie
instance of	wds:Q28321938-C87A4362-A49C-4274-BF9D-0E2F9F5D0BFF
instance of	Homo sapiens
skos:altLabel	Valerie Cormier-Daire (en) Valerie Cormier-Daire (es) Valerie Cormier-Daire (nl) Valerie Cormier-Daire (ast)
occupation	wds:Q28321938-394A6147-CA5D-485C-A330-D85EC877FD3C
sex or gender	wds:Q28321938-C330E7F6-E6DD-4542-8735-B4BA1285FA7C
ISNI	wds:Q28321938-3EC0C1BF-176A-493C-A6EC-B1DF4EACD6DD
VIAF ID	wds:Q28321938-B21AA7F0-D9B2-4121-9736-6C3A7056C91C
IdRef ID	wds:Q28321938-F4D0D058-533D-4533-A753-68F6696BEC66
VIAF ID	http://viaf.org/viaf/8052160668214103560002
IdRef ID	http://www.idref.fr/070209227/id
occupation	researcher
sex or gender	female organism
ISNI	0000000140939125
VIAF ID	8052160668214103560002
IdRef ID	070209227
ORCID iD	wds:Q28321938-F7CE459E-16EC-48B7-B8AE-B6782F9D54A9
ORCID iD	https://orcid.org/0000-0002-2839-9856
ORCID iD	0000-0002-2839-9856
ResearcherID	wds:Q28321938-ED24A61D-4F06-4F1E-ACEF-82A1544E680A
ResearcherID	H-6520-2017
is owl:sameAs of	Valérie Cormier-Daire
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q28321938
is author of	TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients Expanding the skeletal phenotype of Loeys-Dietz syndrome. Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) Clinical aspects of mitochondrial disorders Hair and Skin Disorders as Signs of Mitochondrial Disease Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations Genetic heterogeneity of Meckel syndrome. The 3M complex maintains microtubule and genome integrity Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis Identification of CANT1 mutations in Desbuquois dysplasia Nosology and classification of genetic skeletal disorders: 2010 revision. Clinical and genetic heterogeneity in Desbuquois dysplasia

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