Listar Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 por autor "VAN GILS, Julien"
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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 revueLibre acceso -
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
HAGHSHENAS, Sadegheh; BOUT, Hidde J; SCHIJNS, Josephine M ...(Human Genetics and Genomics Advances. vol. 5, n° 3, pp. 100287, 2024-03-29)Article de revueLibre acceso -
Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians.
ADAMO-CROUX, Marie; AUGER-GILLI, Adriane; GUYADER, Gwenaël Le ...(Archives de Pédiatrie. vol. 31, n° 5, pp. 320-325, 2024-07-01)Article de revue