Kolexia
Lecoquierre Francois Génétique médicale
Lecoquierre Francois
Génétique médicale
Hôpital Charles Nicolle
Rouen, France
72 Activités
211 Followers
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Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Prédisposition génétique à une maladie Obésité Épilepsie Crises épileptiques Hypotonie musculaire Syndrome de Cornelia de Lange Mégalencéphalie Délétion de segment de chromosome

Collaborateurs

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Nicolas Gael
Nicolas Gael
Hôpital Charles Nicolle, Rouen, France
Saugier-Veber Pascale
Saugier-Veber Pascale
Hôpital Charles Nicolle, Rouen, France
Trocme-Goldenberg Alice
Trocme-Goldenberg Alice
Hôpital Charles Nicolle, Rouen, France
Frebourg Thierry
Frebourg Thierry
Hôpital Charles Nicolle, Rouen, France

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Shire
1 collaboration(s)
Dernière en 2017
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Dernières activités

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A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
Genetics in medicine : official journal of the American College of Medical Genetics   07 mars 2024
Penetrance, variable expressivity and monogenic neurodevelopmental disorders.
European journal of medical genetics   05 mars 2024
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.
Scientific reports   04 mars 2024
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
American journal of human genetics   06 février 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Molecular genetics & genomic medicine   30 janvier 2024
RBMX2, a novel candidate gene for an X-linked neurodevelopmental disorder
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
A syndrome can hide another: a case of Tay-Sachs disease associated with Prader-Willi syndrome secondary to maternal uniparental disomy of chromosome 15
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
First description of likely pathogenic variants in ACTB causing Baraitser-Winter cerebrofrontofacial syndrome without intellectual disability in two generations
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Molecular and Phenotypic Characterization of the -Related Disorder.
Neurology   22 décembre 2023