Kolexia
Guerrot Anne-Marie Génétique médicale
Guerrot Anne-Marie
Génétique médicale
Hôpital Charles Nicolle
Rouen, France
82 Activités
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Scientifique
Digital
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Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Hypotonie musculaire Microcéphalie Atrophie Faciès Malformations Prédisposition génétique à une maladie Cardiopathies congénitales

Collaborateurs

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Trocme-Goldenberg Alice
Trocme-Goldenberg Alice
Hôpital Charles Nicolle, Rouen, France
Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Saugier-Veber Pascale
Saugier-Veber Pascale
Hôpital Charles Nicolle, Rouen, France
Isidor Bertrand
Isidor Bertrand
Hôpital Hôtel-Dieu Nantes, Nantes, France

Industries

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Biogen
1 collaboration(s)
Dernière en 2017
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Dernières activités

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Data (gold) mining in genomic databases subsequent to intensive prospective bibliographic monitoring: a substantial diagnostic rate
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders
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
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
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
Growth charts in DYRK1A syndrome.
American journal of medical genetics. Part A   22 septembre 2023
Loss-of-function variants in cause a syndromic neurodevelopmental disorder.
medRxiv : the preprint server for health sciences   16 juin 2023
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.
International journal of pediatric otorhinolaryngology   11 juin 2023
Epigenetic study: an aid in the diagnostic impasse of Kabuki syndrome
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023