Kolexia
Heddar Abdelkader
Génétique médicale
Hôpital Bicêtre
Le Kremlin-Bicêtre, France
26 Activités
187 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Insuffisance ovarienne primitive Cassure de chromosome Défaillance hépatique aigüe Anémie de Fanconi Défaillance hépatique Instabilité des chromosomes Chondrosarcome Tumeurs osseuses Monosomie

Industries

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Dernières activités

O-305窶クext-generation sequencing of a cohort of 100 patients with diminished ovarian reserve reveals an etiology in 27% of cases and may predict the fertility prognosis
39th Hybrid Annual Meeting of the European Society of Human Reproduction and Embryology   22 juin 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
Architecture génétique de l’insuffisance ovarienne primitive à partir d’une large cohorte de 375 patientes : nouveaux gènes et voies moléculaires identifiés, implication pour une médecine personnalisée
38e Congrès SFE Octobre 2022   01 octobre 2022
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.
EBioMedicine   10 septembre 2022
Genetics of primary ovarian insufficiency: a careful step-by-step approach based on solid foundations to bring new knowledge.
Fertility and sterility   28 juin 2022
A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability.
Clinical genetics   09 novembre 2021
P–577 Impaired double strand DNA repair in isolated Primary Ovarian Insufficiency with homozygous nonsense mutation of SPIDR
37th Virtual Annual Meeting of the European Society of Human Reproduction and Embryology   06 août 2021
Should FANCL heterozygous pathogenic variants be considered as potentially causative of primary ovarian insufficiency?
Human mutation   17 mai 2021
Power and Pitfalls of Computational Methods to Identify New Genes Responsible for Acute Liver Failure of Indeterminate Etiology in Adults.
Clinical and translational gastroenterology   18 mars 2021
Correction to: Power and Pitfalls of Computational Methods to Identify New Genes Responsible for Acute Liver Failure of Indeterminate Etiology in Adults.
Clinical and translational gastroenterology   18 mars 2021