Missense variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

Maia, NunoIbarluzea, NekaneMisra-Isrie, MalaKoboldt, Daniel C.Marques, IsabelSoares, GabrielaSantos, RosárioMarcelis, CarloKeski-Filppula, RiikkaGuitart, MiriamGabau Vila, ElisabethLehman, AprilHickey, ScottMori, MariTerhal, PaulienValenzuela, IreneLasa,-Aranzasti, AmaiaCueto-González, Anna MariaChhouk, Brian H.Yeh, Rebecca C.Neil, Jennifer E.Abu-Libde, BassamKleefstra, TjitskeElting, Mariet W.Császár, AndreaKárteszi, JuditBessenyei, Beátavan Bokhoven, HansJorge, Paulavan Hagen, Johanna M.de Brouwer, Arjan P. M.2023-01-122023-01-122022American Journal Of Medical Genetics Part A. -191 : 1 (2022), p. 135-143. -Am. J. Med. Genet. A. - 1552-48251552-4825https://hdl.handle.net/2437/343409Missense variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromesfolyóiratcikkopen access articlehttps://ebib.lib.unideb.hu/ebib/CorvinaWeb?action=cclfind&resultview=long&ccltext=idno+BIBFORM106435OrvostudományokKlinikai orvostudományokhttps://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63004szerzőhttp://dx.doi.org/10.1002/ajmg.a.630042023-01-1200087102660000185140230561