Kolexia
Whalen Sandra Génétique médicale
Whalen Sandra
Génétique médicale
Ime De Tilly Ass Apeer
Tilly, France
112 Activités
3 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Épilepsie Prédisposition génétique à une maladie Troubles de la croissance Arthrogrypose Délétion de segment de chromosome Syndromes myasthéniques congénitaux Malformations multiples Perte d'audition

Collaborateurs

Voir plus
Keren Boris
Keren Boris
Hôpital Pitie Salpetriere, Paris, France
Mignot Cyril
Mignot Cyril
Hôpital Armand Trousseau, Paris, France
Heron-Bruneau Delphine
Heron-Bruneau Delphine
Hôpital Pitie Salpetriere, Paris, France
Afenjar Alexandra
Afenjar Alexandra
Hôpital Armand Trousseau, Paris, France

Industries

Voir plus
M3 Global Research Ltd
1 collaboration(s)
Dernière en 2018
{{person.topindus2.name}}
{{person.topindus2.tot}} collaboration(s)
Dernière en {{person.topindus2.last}}
{{person.topindus3.name}}
{{person.topindus3.tot}} collaboration(s)
Dernière en {{person.topindus3.last}}
{{person.topindus4.name}}
{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

Voir plus
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
Role of RBP4 in eye development: 7 novel families with ocular malformations and literature review
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Further characterisation of -related disorders in females due to inherited or de novo variants.
Journal of medical genetics   25 octobre 2023
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: a series of 20 unreported individuals.
Genetics in medicine : official journal of the American College of Medical Genetics   17 octobre 2023
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
Pigment cell & melanoma research   31 août 2023
Clinical, genetic and biochemical signatures of -related ocular malformations.
Journal of medical genetics   16 août 2023
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Clinical genetics   14 août 2023
Update on the phenotype of symptomatic females with ARX pathogenic variants, including 9 new patients
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Genetics of anomalies of the corpus callosum: lessons from a cohort of 403 individuals
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Establishing the neurodevelopmental phenotype and genotype-phenotype correlations in individuals with a TRIP12 mutation
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023