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Olivier Micheau

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

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Equipe GAD Aymeric Masson,1 Julien Paccaud,1 Martina Orefice,2 Estelle Colin,1 Outi Mäkitie,3 Valérie Cormier-Daire,4 Raissa Relator,5 Sourav Ghosh,5 Jean-Marc Strub,6 Christine Schaeffer-Reiss,6 Carlo Marcelis,7 David A. Koolen,7 Rolph Pfundt,8 Elke de Boer,7 Lisenka E.L.M. Vissers,7 Thatjana Gardeitchik,8 Lonneke A.M. Aarts,9 Tuula Rinne,7 Paulien A. Terhal,10 Nienke E. Verbeek,10 Linda C. Zuurbier,11 Astrid S. Plomp,12 Marja … Lire la suite

Pr Philippe Froguel Monday May the 5th 2025

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Precision Metabolic Medicine: new insight and hopes Type 2 diabetes and obesity are multifactorial systemic conditions associated with serious co- morbidities. They both have a strong genetic and epigenetic basis that have been in part elucidated by both Genome Wide Association Studies (for the polygenic background) and by genome sequencing (for rare variants causing monogenic … Lire la suite