Kolexia
Gerard Benedicte
Pharmacien
Lbm Eurofins Biomnis Lyon 7
Lyon, France
115 Activités
354 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Maladies rares Microcéphalie Épilepsie Malformations multiples Prédisposition génétique à une maladie Délétion de segment de chromosome Amélogenèse imparfaite Malformations dentaires

Industries

Pfizer
1 collaboration(s)
Dernière en 2022
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Dernières activités

DISSEQ: Medico-economic Evaluation of Different High-throughput Sequencing Strategies in the Diagnosis of Patients With Intellectual Deficiency
Essai Clinique (CHU Dijon-Bourgogne)   18 mars 2024
Penetrance, variable expressivity and monogenic neurodevelopmental disorders.
European journal of medical genetics   05 mars 2024
DEFIDIAG: Etude Pilote Des différentes stratégies de séquençage Haut débit du génome Pour le Diagnostic génétique Des Patients Atteints de déficience Intellectuelle
Essai Clinique (Institut National de la Santé Et de la Recherche Médicale, France)   04 mars 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
European journal of human genetics : EJHG   15 février 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Molecular genetics & genomic medicine   30 janvier 2024
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
LINE-1 retrotransposon insertion in RPS6KA3 as a cause of Coffin-Lowry syndrome
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
DISSEQ – Double-blind exome and large gene panel sequencing analyses in the first-line diagnosis of 330 patients with intellectual disability (ID): ES superiority for the identification of CNV, variants in new disease-causing genes, and new candidate genes, as well as the advantage of possible prospective reanalysis
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Brain : a journal of neurology   01 décembre 2023
42.1 Gain-of-function and loss-of-function GRIA3 variants lead to distinct neurodevelopmental phenotypes
Epilepsia Congress 2023   29 novembre 2023