Kolexia
Marlin Sandrine
Génétique médicale
Hôpital Necker Enfants Malades
Paris, France
162 Activités
17 Followers

Scientifique
Digital
Production scientifique
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Perte d'audition Surdité Surdité neurosensorielle Déficience intellectuelle Malformations multiples Syndrome de Waardenburg Faciès Prédisposition génétique à une maladie Syndromes d'Usher

Industries

MED-EL Elektromedizinische Geraete Gesellschaft m.b.H
2 collaboration(s)
Dernière en 2023
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Dernières activités

3q29 duplications: A cohort of 46 patients and a literature review.
American journal of medical genetics. Part A   29 février 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
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
Clinical phenotype of Noonan syndrome due to RRAS2 mutations: 6 new cases and review of the literature
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
Mammary tumour microenvironment response to vitamin D and exercise in aged mice fed by high fat diet
Clinical nutrition ESPEN   01 décembre 2023
Long-term high-fat diet limits exercice benefits on mammary tumor growth in mice
Clinical nutrition ESPEN   01 décembre 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
European journal of human genetics : EJHG   23 octobre 2023
RIPOR2: A new gene of non-syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models.
Clinical genetics   21 octobre 2023
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.
Frontiers in pediatrics   17 août 2023