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TITLE: MISSENSE MED12 VARIANTS IN 22 MALES WITH INTELLECTUAL DISABILITY: FROM NON-SPECIFIC SYMPTOMS TO COMPLETE SYNDROMES  Full Text
AUTHORS: Maia, Nuno; Ibarluzea, Nekane; Misra Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosario; Marcelis, Carlo L. M.; Keski Filppula, Riikka; Guitart, Miriam; Vila, Elisbeth Gabau; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa Aranzasti, Amaia; Cueto Gonzalez, Anna Ma; Chhouk, Brian H.; Yeh, Rebecca C.; Neil, Jennifer E.; Abu Libde, Bassam; Kleefstra, Tjitske; Elting, Mariet W.; Csaszar, Andrea; Karteszi, Judit; Bessenyei, Beata; van Bokhoven, Hans; Jorge, Paula; van Hagen, Johanna M.; de Brouwer, Arjan P. M.; ...More
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
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TITLE: Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes  Full Text
AUTHORS: Maia, Nuno; Ibarluzea, Nekane; Misra Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosario; Marcelis, Carlo L. M.; Keski Filppula, Riikka; Guitart, Miriam; Vila, Elisabeth Gabau; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa Aranzasti, Amaia; Cueto Gonzalez, Anna Maria; Chhouk, Brian H.; Yeh, Rebecca C.; Neil, Jennifer E.; Abu Libde, Bassam; Kleefstra, Tjitske; Elting, Mariet W.; Csaszar, Andrea; Karteszi, Judit; Bessenyei, Beata; van Bokhoven, Hans; Jorge, Paula; van Hagen, Johanna M.; de Brouwer, Arjan P. M.; ...More
PUBLISHED: 2022, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
INDEXED IN: Scopus WOS
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TITLE: New mutations in the ATM gene and clinical data of 25 AT patients  Full Text
AUTHORS: Ilja Demuth; Veronique Dutrannoy; Wilson Marques; Heidemarie Neitzel; Detlev Schindler; Petja S Dimova; Krystyna H Chrzanowska; Veneta Bojinova; Hanna Gregorek; Luitgard M Graul Neumann; Arpad von Moers; Ilka Schulze; Marion Nicke; Elcin Bora; Tufan Cankaya; Eva Olah; Csongor Kiss; Beata Bessenyei; Katalin Szakszon; Ursula Gruber Sedlmayr; Peter Michael Kroisel; Sigrun Sodia; Timm O Goecke; Thilo Doerk; Martin Digweed; Karl Sperling; Joaquim de Sa; Charles Marques Lourenco; Raymonda Varon; ...More
PUBLISHED: 2011, SOURCE: NEUROGENETICS, VOLUME: 12, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef