Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "GENEVIÈVE, David"
Now showing items 1-2 of 2
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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
HUSSON, Thomas; LECOQUIERRE, François; NICOLAS, Gaël ...(European Journal of Human Genetics, 2023-10-23)Article de revueOpen access -
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.
BESSIS, Didier; BURSZTEJN, Anne-Claire; MORICE-PICARD, Fanny ...(Journal of the European Academy of Dermatology and Venereology, 2024-04-10)Article de revueOpen access