Kolexia
Bezieau Stephane Pharmacien
Bezieau Stephane
Pharmacien
Hôpital Hôtel-Dieu Nantes
Nantes, France
297 Activités
1.3 K Followers
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{{person.topmesh1.name}} Tumeurs colorectales Prédisposition génétique à une maladie Déficience intellectuelle Instabilité des microsatellites Tumeurs du côlon Polyglobulie Carcinomes Maladies rares Tumeurs de l'ovaire

Collaborateurs

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Isidor Bertrand
Isidor Bertrand
Hôpital Hôtel-Dieu Nantes, Nantes, France
Cogné Benjamin
Cogné Benjamin
Hôpital Hôtel-Dieu Nantes, Nantes, France
Mercier Sandra
Mercier Sandra
Hôpital Hôtel-Dieu Nantes, Nantes, France
Bonneau Dominique
Bonneau Dominique
Hôpital Larrey Angers, Angers, France

Industries

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AstraZeneca
2 collaboration(s)
Dernière en 2021
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Dernières activités

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Biallelic USP14 variants cause a syndromic neurodevelopmental disorder
Genetics in medicine : official journal of the American College of Medical Genetics   10 mars 2024
Penetrance, variable expressivity and monogenic neurodevelopmental disorders.
European journal of medical genetics   05 mars 2024
Neurodevelopmental proteasomopathies: New disorders caused by proteasome dysfunction.
Medecine sciences : M/S   27 février 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene in neurodevelopmental proteasomopathies.
medRxiv : the preprint server for health sciences   26 janvier 2024
Role of CAMK2D in neurodevelopment and associated conditions.
American journal of human genetics   18 janvier 2024
Genomic newborn screening in France: from a social acceptability study to a pilot project
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
P428: De novo truncating variants in ZNF865: A putative cause of a neurodevelopmental disorder
2024 ACMG Annual Clinical Genetics Meeting   01 janvier 2024
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Genetics in medicine : official journal of the American College of Medical Genetics   26 décembre 2023
Genome-wide gene-environment interaction analyses to understand the relationship between red meat and processed meat intake and colorectal cancer risk.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology   19 décembre 2023
Characterization of genetic variants in the gene identified in a European collection of patients with erythrocytosis.
Haematologica   01 novembre 2023