Listar Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 por autor "EL CHEHADEH, Salima"
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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 -
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 revueLibre acceso -
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
PALMER, Elizabeth E; PUSCH, Michael; PICOLLO, Alessandra ...(Molecular Psychiatry. vol. 28, n° 2, pp. 668-697, 2023-02-01)Article de revueLibre acceso