Kolexia
Jacquette Aurelia
Génétique médicale
Centre Hospitalier Intercommunal Alençon-Mamers
Alençon, France
52 Activités
0 Followers

Scientifique
Digital
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Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Dystrophie myotonique Épilepsie Délétion de segment de chromosome Microcéphalie Agénésie du corps calleux Hémopathies Maladies vestibulaires

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Pfizer
1 collaboration(s)
Dernière en 2023
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Dernières activités

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
European journal of human genetics : EJHG   22 novembre 2021
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
Journal of medical genetics   10 avril 2020
Growth charts in Kabuki syndrome 1.
American journal of medical genetics. Part A   26 décembre 2019
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.
American journal of medical genetics. Part A   03 décembre 2019
novo ARX mutations in female patients with agenesis of the corpus callosum and intellectual disability
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019
Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
NPJ genomic medicine   01 juillet 2019
Further delineation of the TBL1XR1 molecular and phenotypic spectrum
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019
chromosomal and molecular characterization of patients with agenesis of the corpus callosum
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019
Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.
Neurology   11 mai 2018
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
Brain : a journal of neurology   31 janvier 2018