Listar Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 por autor "BADENS, Catherine"
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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 -
Correspondence on « De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females » by Polla et al.
RICCARDI, Florence; ASTIER, Alexandre; GRISVAL, Margot ...(Genetics in Medicine. vol. 23, n° 10, pp. 2003-2004, 2021-06-02)Article de revue -
Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo.
AQUARON, Robert; LASSEAUX, Eulalie; KELEKELE, Joseph ...(vol. 65, n° 10, pp. 104594, 2022-10-01)Article de revue