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TÍTULO: Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome  Full Text
AUTORES: Marielle Alders; Lihadh Al Gazali; Isabelle Cordeiro; Bruno Dallapiccola; Livia Garavelli; Beyhan Tuysuz; Faranak Salehi; Martin A Haagmans; Olaf R Mook; Charles B Majoie; Marcel M Mannens; Raoul C Hennekam;
PUBLICAÇÃO: 2014, FONTE: HUMAN GENETICS, VOLUME: 133, NÚMERO: 9
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients  Full Text
AUTORES: Santen, GWE; Aten, E; Vulto van Silfhout, AT; Pottinger, C; van Bon, BWM; van Minderhout, IJHM; Snowdowne, R; van der Lans, CAC; Boogaard, M; Linssen, MML; Vijfhuizen, L; van der Wielen, MJR; Vollebregt, MJE; Breuning, MH; Kriek, M; van Haeringen, A; den Dunnen, JT; Hoischen, A; Clayton Smith, J; de Vries, BBA; ...Mais
PUBLICAÇÃO: 2013, FONTE: HUMAN MUTATION, VOLUME: 34, NÚMERO: 11
INDEXADO EM: Scopus WOS CrossRef