Listar Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 por autor "KEREN, Boris"
Mostrando ítems 1-6 de 6
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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 revueLibre acceso -
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
SCHALK, Audrey; COUSIN, Margot A; DSOUZA, Nikita R ...Document de travail - Pré-publicationLibre acceso -
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
LINES, Matthew A; GOLDENBERG, Paula; WONG, Ashley ...(American Journal of Medical Genetics Part A. vol. 188, n° 6, pp. 1667-1675, 2022-06-01)Article de revue -
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 -
ARF1-related disorder: phenotypic and molecular spectrum
DE SAINTE AGATHE, Jean-Madeleine; PODE-SHAKKED, Ben; NAUDION, Sophie ...(Journal of Medical Genetics. vol. 60, n° 10, pp. 999-1005, 2023-04-25)Article de revueLibre acceso -
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