Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "OLASO, Robert"
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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 -
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
COURSIMAULT, Juliette; CASSINARI, Kevin; LECOQUIERRE, François ...(Human Mutation. vol. 43, n° 12, pp. 1882-1897, 2022-12-01)Article de revueOpen access