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Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps von Morava, Eva, Wosik, H, Karteszi, J, Guillard, M, Adamowicz, M, Sykut-Cegielska, J, Hadzsiev, K, Wevers, R.A, Lefeber, D.J

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Missense variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes von Maia, Nuno, Ibarluzea, Nekane, Misra-Isrie, Mala, Koboldt, Daniel C, Marques, Isabel, Soares, Gabriela, Santos, Rosário, Marcelis, Carlo L. M, Keski-Filppula, Riikka, Guitart, Maria, Gabau, Elisabeth, Lehman, April, Hickey, Scott, Mori, Mari, Terhal, Paulien, Valenzuela, Irene, Lasa-Aranzasti, Amaia, Cueto-González, Anna Mª, Chhouk, Brian H, Yeh, Rebecca C, Neil, Jennifer E, Abu-Libde, Bassam, Kleefstra, Tjitske, Elting, Mariet W, Császár, Andrea, Kárteszi, Judit, Bessenyei, Beáta, van Bokhoven, Hans, Jorge, Paula, van Hagen, Johanna M, de Brouwer, Arjan P. M, Universitat Autònoma de Barcelona

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