Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "AFENJAR, Alexandra"
Now showing items 1-3 of 3
-
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome
MARBACH, Felix; LIPSKA-ZIETKIEWICZ, Beata S.; KNUROWSKA, Agata ...(American Journal of Medical Genetics Part A. vol. 188, n° 9, pp. 2627-2636, 2022-09)Article de revueOpen access -
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
ROUXEL, Flavien; YAUY, Kevin; BOURSIER, Guilaine ...(European Journal of Human Genetics. vol. 30, n° 6, pp. 682-686, 2022-06-01)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 revueOpen access