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TÃTULO: MISSENSE MED12 VARIANTS IN 22 MALES WITH INTELLECTUAL DISABILITY: FROM NON-SPECIFIC SYMPTOMS TO COMPLETE SYNDROMES Full Text
AUTORES: 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.; ...Mais
PUBLICAÇÃO: 2023, FONTE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, NÚMERO: 13

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TÃTULO: Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes Full Text
AUTORES: 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.; ...Mais
PUBLICAÇÃO: 2022, FONTE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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TÃTULO: Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study
AUTORES: Romy Van de Putte; Iris A L M Van Rooij; Carlo L M Marcelis; Michel H Guo; Han G Brunner; Marie Claude Addor; Clara Cavero Carbonell; Carlos M Dias; Elizabeth S Draper; Larraitz Etxebarriarteun; Miriam Gatt; Martin Haeusler; Babak Khoshnood; Kari Klungsoyr; Jenny J Kurinczuk; Monica Lanzoni; Anna Latos Bielenska; Karen Luyt; Mary T O'Mahony; Nicola Miller; Carmel Mullaney; Vera Nelen; Amanda J Neville; Isabelle Perthus; Anna Pierini; Hanitra Randrianaivo; Judith Rankin; Anke Rissmann; Florence Rouget; Bruno Schaub; David Tucker; Diana Wellesley; Awi Wiesel; Natalya Zymak Zakutnia; Maria Loane; Ingeborg Barisic; Hermien E K De Walle; Nel Roeleveld; Jorieke E H Bergman; ...Mais
PUBLICAÇÃO: 2020, FONTE: PEDIATRIC RESEARCH, VOLUME: 87, NÚMERO: 3

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TÃTULO: Maternal risk factors for the VACTERL association: A EUROCAT case-control study
AUTORES: Romy van de Putte; Iris A L M Van Rooij; Cynthia P Haanappel; Carlo L M Marcelis; Han G Brunner; Marie Claude Addor; Clara Cavero Carbonell; Carlos M Dias; Elizabeth S Draper; Larraitz Etxebarriarteun; Miriam Gatt; Babak Khoshnood; Agnieszka Kinsner Ovaskainen; Kari Klungsoyr; Jenny J Kurinczuk; Anna Latos Bielenska; Karen Luyt; Mary T O'Mahony; Nicola Miller; Carmel Mullaney; Vera Nelen; Amanda J Neville; Isabelle Perthus; Anna Pierini; Hanitra Randrianaivo; Judith Rankin; Anke Rissmann; Florence Rouget; Bruno Schaub; David Tucker; Diana Wellesley; Awi Wiesel; Natalya Zymak Zakutnia; Maria Loane; Ingeborg Barisic; Hermien E K De Walle; Jorieke E H Bergman; Nel Roeleveld; ...Mais
PUBLICAÇÃO: 2020, FONTE: BIRTH DEFECTS RESEARCH, VOLUME: 112, NÚMERO: 9

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TÃTULO: Anaerobic desulphurisation of thiophenes by mixed microbial communities from oilfields Full Text
AUTORES: Marcelis, CLM; Ivanova, AE; Janssen, AJH; Stams, AJM;
PUBLICAÇÃO: 2003, FONTE: Biodegradation, VOLUME: 14, NÚMERO: 3

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