Kolexia
Schaefer Élise Génétique médicale
Schaefer Élise
Génétique médicale
Hôpital Hautepierre
Strasbourg, France
179 Activités
79 Followers
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Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Syndrome de Bardet-Biedl Épilepsie Malformations Prédisposition génétique à une maladie Microcéphalie Ciliopathies Polydactylie

Collaborateurs

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Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Dollfus Helene
Dollfus Helene
Hôpital Hautepierre, Strasbourg, France
Isidor Bertrand
Isidor Bertrand
Hôpital Hôtel-Dieu Nantes, Nantes, France
Trocme-Goldenberg Alice
Trocme-Goldenberg Alice
Hôpital Charles Nicolle, Rouen, France

Industries

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Sanofi
7 collaboration(s)
Dernière en 2023
Pfizer
4 collaboration(s)
Dernière en 2023
EXAFIELD
1 collaboration(s)
Dernière en 2020
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{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

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"Recurrent familial case of early childhood sudden death: complex post mortem genetic investigations"
Forensic science international. Genetics   02 mars 2024
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Clinical genetics   29 février 2024
National French retrospective cohort of 22 individuals with kyphoscoliotic Ehlers-Danlos syndrome: emphasis on vascular involvement
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann-Steiner syndromes
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Al Kaissi syndrome : a novel cohort of 15 patients with biallelic variations in the CDK10 gene : functional analysis, phenotypic description and review of the literature
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Interest of chromosomal (array-CGH) and genic (HTS) analyzes in Autism Spectrum Disorder: study of two cohorts of 323 and 64 patients, and proposal of a diagnostic strategy
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
“Knowing and Treating Kosaki/Penttinen syndromes” international collaborative consortium: a real-life observational study about the natural history of KOGS & PS and the safety & efficacy profile of TKI in these indications
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
American journal of medical genetics. Part A   16 novembre 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