Kolexia
Demurger Florence Génétique médicale
Demurger Florence
Génétique médicale
Centre Hospitalier Bretagne Atlantique
Vannes, France
66 Activités
52 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Cardiopathies congénitales Hypotonie musculaire Prédisposition génétique à une maladie Maladies foetales Tachycardie ventriculaire Hernies diaphragmatiques congénitales Mort subite

Collaborateurs

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Odent Sylvie
Odent Sylvie
Hôpital Sud Rennes, Rennes, France
Fradin Melanie
Fradin Melanie
Hôpital Sud Rennes, Rennes, France
Dubourg Christele
Dubourg Christele
Hôpital Pontchaillou, Rennes, France
Pasquier Laurent
Pasquier Laurent
Hôpital Sud Rennes, Rennes, France

Industries

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Biogen
2 collaboration(s)
Dernière en 2022
INTER-VIEW PARTNERS FRANCE
2 collaboration(s)
Dernière en 2023
EXAFIELD
1 collaboration(s)
Dernière en 2022
Sanofi
1 collaboration(s)
Dernière en 2022

Dernières activités

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Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.
Genetics in medicine : official journal of the American College of Medical Genetics   24 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
Optical Genome Mapping. Contribution to the Etiological Diagnosis of Developmental disorders : experience of the Nantes Genetic Department on over 60 individuals
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Syntelencephaly (Middle interhemispheric variant): an holoprosencephaly (HPE) like the others?
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
OPALE: Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
Essai Clinique (Hôpital Pitie Salpetriere)   13 décembre 2023
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Clinical genetics   03 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
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Research square   29 septembre 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
European journal of human genetics : EJHG   27 juillet 2023