Kolexia
Gatinois Vincent
Pharmacien
Hôpital Arnaud de Villeneuve
Limoges, France
73 Activités
1.5 K Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Malformations multiples Déficience intellectuelle Chromothripsis Hémopathies Maladies vestibulaires Aberrations des chromosomes Translocation génétique Prédisposition génétique à une maladie Syndrome de Down

Industries

AGILENT TECHNOLOGIES FRANCE
1 collaboration(s)
Dernière en 2018
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Dernières activités

GENEXPLOR: Search for Structural Variants in Patients With Disorders of Sex Development (DSD) and Inconclusive Molecular Diagnosis GENEXPLOR-DSD
Essai Clinique (CHU Montpellier)   07 février 2024
De novo balanced translocations disrupting the FBN1 gene: an uncommon cause of Marfan syndrome
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: a series of 20 unreported individuals.
Genetics in medicine : official journal of the American College of Medical Genetics   17 octobre 2023
Quantification of Female Chimeric Cells in the Tonsils of Male Children and Their Determinants.
Cells   21 août 2023
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
American journal of human genetics   17 avril 2023
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
American journal of medical genetics. Part A   11 novembre 2022
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
Journal of medical genetics   22 septembre 2022
Détection d’évènements cellulaires rares par microscopie à fluorescence automatisée
Congrès AM/CHEC 2022   01 septembre 2022
Large genomic imbalances and phenotype
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
HeliPS: Pathology of Helicases and Premature Aging: Study by Derivation of hiPS
Essai Clinique (CHU Montpellier)   08 décembre 2021