Missense med12 variants in 22 males with intellectual disability: from non-specific symptoms to complete syndromes
Nuno Maia,Nekane Ibarluzea,Mala Misra-Isrie,Daniel C. Koboldt,Isabel Marques,Gabriela Soares,Rosario Santos,Carlo L. M. Marcelis,Riikka Keski-Filppula,Miriam Guitart, Elisbeth Gabau Vila,April Lehman,Scott Hickey,Mari Mori,Paulien Terhal,Irene Valenzuela,Amaia Lasa-Aranzasti,Anna Ma Cueto-Gonzalez,Brian H. Chhouk,Rebecca C. Yeh,Jennifer E. Neil,Bassam Abu-Libde,Tjitske Kleefstra,Mariet W. Elting, Andrea Csaszar, Judit Karteszi,Beata Bessenyei,Hans van Bokhoven,Paula Jorge,Johanna M. van Hagen,Arjan P. M. de Brouwer MEDICINE(2023)
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