Kolexia
Louis-Darmency Véronique Pédiatrie
Louis-Darmency Véronique
Pédiatrie
Fondation Lenval - Hôpital pour enfants
Nice, France
39 Activités
11 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Épilepsie Encéphalopathies Crises épileptiques Hypopigmentation Disomie uniparentale Mort infantile Épilepsies partielles Syndrome néphrotique Malformations corticales

Collaborateurs

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Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Thauvin-Robinet Christel
Thauvin-Robinet Christel
Hôpital François Mitterrand, Dijon, France
Lemesle Martine
Lemesle Martine
Hôpital François Mitterrand, Dijon, France
Chouchane Mondher
Chouchane Mondher
Hôpital François Mitterrand, Dijon, France

Industries

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Adept Field Solutions
3 collaboration(s)
Dernière en 2022
B3TSI
2 collaboration(s)
Dernière en 2023
Eisai
2 collaboration(s)
Dernière en 2022
UCB
1 collaboration(s)
Dernière en 2023

Dernières activités

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Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Clinical genetics   29 janvier 2024
Interest of exome sequencing in non-syndromic specific learning disorders: a French pilot study
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
American journal of medical genetics. Part A   09 septembre 2022
Epileptic encephalopathy as a new feature of TSPYL1 variants, associated with sudden infant death with dysgenesis of the testes
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Partial uniparental disomy of chromosome 4 causes by homozygous TRAPPC11 truncating variant
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Further delineation of the clinical spectrum of variants in the ASCL1 gene
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Correction: The landscape of epilepsy-related GATOR1 variants.
Genetics in medicine : official journal of the American College of Medical Genetics   11 février 2022
Correction to: The landscape of epilepsy-related GATOR1 variants.
Genetics in medicine : official journal of the American College of Medical Genetics   11 février 2022
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genetics in medicine : official journal of the American College of Medical Genetics   10 février 2022
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Molecular genetics and metabolism reports   18 octobre 2021