Kolexia
Cormier-Daire Valerie
Génétique médicale
Hôpital Necker Enfants Malades
Paris, France
375 Activités
47 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Ostéochondrodysplasies Nanisme Malformations multiples Achondroplasie Dysplasies osseuses Troubles de la croissance Maladies osseuses Faciès

Industries

Ipsen
6 collaboration(s)
Dernière en 2020
MEREO BIOPHARMA
2 collaboration(s)
Dernière en 2022
BioMarin
2 collaboration(s)
Dernière en 2023
Ultragenyx
1 collaboration(s)
Dernière en 2023

Dernières activités

Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report.
Clinical genetics   22 février 2024
AI-based diagnosis and phenotype – Genotype correlations in syndromic craniosynostoses
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery   05 février 2024
ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions.
European journal of medical genetics   01 février 2024
Prospective Clinical Assessment Study in Children With Achondroplasia (ACH): Prospective Clinical Assessment Study in Children With Achondroplasia: The PROPEL Trial
Essai Clinique (QED Therapeutics, Inc.)   30 janvier 2024
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Scientific reports   28 janvier 2024
SMAD4-associated Myhre-syndrome mutations are under positive selection in the male germline
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Expanding the phenotype in Schaaf-Yang syndrome due to MAGEL2 non-truncating variants
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
“Knowing and Treating Kosaki/Penttinen syndromes” international collaborative consortium: a real-life observational study about the natural history of KOGS & PS and the safety & efficacy profile of TKI in these indications
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Homozygous mutations in KIF22 are responsible for a milder form of spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024