Listar Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 por autor "AFENJAR, Alexandra"
Mostrando ítems 1-4 de 4
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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
(European Journal of Human Genetics, 2023-10-23)Article de revueLibre acceso
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Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome
(American Journal of Medical Genetics Part A. vol. 188, n° 9, pp. 2627-2636, 2022-09)Article de revueLibre acceso
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Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
(European Journal of Human Genetics. vol. 30, n° 6, pp. 682-686, 2022-06-01)Article de revue -
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
(Annals of Neurology. vol. 78, n° 6, pp. 871-86, 2015-12-01)Article de revue