Listar Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 por autor "LAMBERT, Laetitia"
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Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
FAIVRE, Laurence; CRÉPIN, Jean-Charles; RÉDA, Manon ...(Clinical Genetics. vol. 104, n° 5, pp. 554-563, 2023-11-01)Article de revue -
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 revueLibre acceso