Kolexia
Dauriat Benjamin
Génétique médicale
Hopital De La Mere Et De L'enfant
Limoges, France
29 Activités
0 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Neurofibromatose de type 1 Gangliosidoses Gangliosidoses à GM2 Neurofibromatoses Mégalencéphalie Maladies rares Malformations cardiovasculaires Hypothyroïdie Infertilité masculine

Industries

Sanofi
4 collaboration(s)
Dernière en 2023
Takeda Pharmaceutical
2 collaboration(s)
Dernière en 2023
Amicus Therapeutics
2 collaboration(s)
Dernière en 2023
Pfizer
2 collaboration(s)
Dernière en 2023

Dernières activités

3q29 duplications: A cohort of 46 patients and a literature review.
American journal of medical genetics. Part A   29 février 2024
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.
Genetics in medicine : official journal of the American College of Medical Genetics   24 janvier 2024
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
Diagnostic yield and implications of exome sequencing analysis, including the use of copy number variant analysis pipeline, for pregnancy management in a series of 46 fetuses with structural anomalies
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Science advances   10 mars 2023
Hereditary predisposition to malignant myeloid hemopathies: Caution in use of saliva and guideline based on our experience.
Frontiers in oncology   27 février 2023
Plasma G ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.
Molecular genetics and metabolism   26 décembre 2022
IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.
European journal of endocrinology   03 novembre 2022
Les mutations d’IGSF1 représentent la 1re cause génétique de déficit thyréotrope constitutionnel
38e Congrès SFE Octobre 2022   01 octobre 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