Kolexia
Mathieu Michele
Génétique médicale
Centre Hospitalier D'Amiens Salouël Site Sud
Salouël, France
69 Activités
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{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Prédisposition génétique à une maladie Délétion de segment de chromosome Faciès Troubles de la croissance Microcéphalie Cardiopathies congénitales Épilepsie

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Dernières activités

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Nature genetics   17 avril 2022
Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.
American journal of medical genetics. Part A   06 août 2021
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Genetics in medicine : official journal of the American College of Medical Genetics   03 août 2021
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Nature genetics   30 janvier 2021
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Clinical genetics   20 janvier 2021
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Clinical genetics   14 novembre 2020
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.
Clinical genetics   22 avril 2020
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Genetics in medicine : official journal of the American College of Medical Genetics   14 novembre 2019
P1247FLNC pathogenic variants in patients with various cardiomyopathies:prevalence and genotype-phenotype correlations
ESC Congress 2019 together with World Congress of Cardiology 31 August – 4 September 2019, Paris - France   01 octobre 2019
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Nature genetics   30 septembre 2019