Kolexia
Baujat Genevieve
Génétique médicale
Hôpital Necker Enfants Malades
Paris, France
245 Activités
0 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Myosite ossifiante Maladies rares Ossification hétérotopique Achondroplasie Déficience intellectuelle Ostéogenèse imparfaite Maladies osseuses Hypophosphatasie Prédisposition génétique à une maladie

Industries

Ipsen
11 collaboration(s)
Dernière en 2023
INOZYME PHARMA, INC.
2 collaboration(s)
Dernière en 2022
Sanofi
2 collaboration(s)
Dernière en 2020
Alexion
2 collaboration(s)
Dernière en 2021

Dernières activités

Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.
Journal of medical genetics   08 mars 2024
MOSAÏQUE: Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism. National Multicentre Descriptive Study.
Essai Clinique (CHU Dijon-Bourgogne)   20 février 2024
Optimizing Care Pathways in Rare Bone Disorders - Medscape Education
Medscape   10 janvier 2024
Fibrodysplasia Ossificans Progressiva: Expert Guidance on Diagnosis and ...
Medscape   08 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
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
Genotype-phenotype correlation and effects of bisphosphonates in rare forms of osteogenesis imperfecta : a retrospective study
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Variability between Jeune Asphyxiating Thoracic Dystrophy and Short-Rib Polydactyly Type III linked to DYNC2H1: Phenotypic, Genotypic Review and searching for a Modifier Gene
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Fibrodysplasia Ossificans Progressiva: Expert Guidance on Diagnosis and ...
Medscape   27 décembre 2023
Optimizing Care Pathways in Rare Bone Disorders - Medscape Education
Medscape   26 décembre 2023