Kolexia
Smol Thomas Biologie médicale
Smol Thomas
Biologie médicale
Hôpital Jeanne de Flandre
Lille, France
110 Activités
221 Followers
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Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Épilepsie Prédisposition génétique à une maladie Crises épileptiques Encéphalopathies Microcéphalie Leucémies Malformations multiples Délétion de segment de chromosome

Collaborateurs

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Ghoumid Jamal
Ghoumid Jamal
Hôpital Jeanne de Flandre, Lille, France
Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Petit Florence
Petit Florence
Hôpital Jeanne de Flandre, Lille, France
Keren Boris
Keren Boris
Hôpital Pitie Salpetriere, Paris, France

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Dernières activités

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Recurrent "outsider" intronic variation in the 6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
Frontiers in genetics   29 janvier 2024
Molecular and Phenotypic Characterization of the -Related Disorder.
Neurology   22 décembre 2023
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.
European journal of human genetics : EJHG   26 octobre 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
Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy.
Reproductive biomedicine online   07 août 2023
Loss-of-function variants in cause a syndromic neurodevelopmental disorder.
medRxiv : the preprint server for health sciences   16 juin 2023
GenIDA, an international participatory database to better understand the natural history and comorbidities of genetic forms of neurodevelopmental disorders
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Contribution of non-coding de novo NIPBL variants to Cornelia de Lange syndrome
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
PACS1-related syndrome: three cases with colobomas further delineating the phenotype
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
MED13L missense variations cause multifaceted functional consequences underlying severe phenotypes
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023