Kolexia
Serey-Gaut Margaux
Génétique médicale
Hôpital Necker Enfants Malades
Paris, France
41 Activités
448 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Perte d'audition Vertige positionnel paroxystique bénin Vertige Malformations multiples Surdité neurosensorielle Anévrysme Dysplasies osseuses Anophtalmie Malformations dentaires

Industries

Sanofi
2 collaboration(s)
Dernière en 2016
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Dernières activités

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
Recurrent benign paroxysmal positional vertigo in DFNB16 patients with biallelic STRC gene deletions
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
When WGS is key to sort out clinical traits: a case of syndromic hearing loss
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
RIPOR2: A new gene of non-syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models.
Clinical genetics   21 octobre 2023
A 22q13.1 duplication in mosaicism including SOX10.
American journal of medical genetics. Part A   02 août 2023
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.
International journal of pediatric otorhinolaryngology   11 juin 2023
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
Audiology research   10 mai 2023
Sordità genetiche
EMC - Otorinolaringoiatria   01 mars 2023
Recurrent Benign Paroxysmal Positional Vertigo in DFNB16 Patients with Biallelic STRC Gene Deletions.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology   10 février 2023
Sorderas genéticas
EMC - Otorrinolaringología   01 février 2023