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TÃTULO: Phenotype and Genotype in Nicolaides-Baraitser Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS) Full Text
AUTORES: Sousa, SB; Hennekam, RC; Abdul Rahman, O; Alders, M; Azzarello Burri, S; Bottani, A; Bowdin, S; Castori, M; Cormier Daire, V; Deardorff, M; Del Campo Casanelles, M; Devriendt, K; Fauth, C; Filges, I; Fryer, A; Garavelli, L; Gillessen Kaesback, G; Hall, B; Hirofumi, O; Holder, S; Hoyer, J; Jenkins, L; Klapeki, J; Krajewska Walasek, M; Kosho, T; Kuechler, A; MacDermot, K; Magee, A; Mari, F; Mathieu Dramard, M; Napier, M; Perez Jurado, LA; Picard, FM; Morin, G; Murday, V; Pilch, J; Ronan, A; Rosser, E; Santen, GWE; Scott, R; Selicorni, A; Shannon, N; Santos Simarro, F; Stewart, H; van den Boogaard, MJ; Vilain, C; Vermeesch, J; Vogels, A; Wakeling, E; Wieczorek, D; Yesil, G; Zuffardi, O; Zweier, C; Sousa, SB; Hennekam, RC; ...Mais
PUBLICAÇÃO: 2014, FONTE: AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, VOLUME: 166, NÚMERO: 3

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TÃTULO: Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome Full Text
AUTORES: Jeroen K J Van Houdt; Beata Anna Nowakowska; Sergio B Sousa; Barbera D C van Schaik; Eve Seuntjens; Nelson Avonce; Alejandro Sifrim; Omar A Abdul Rahman; Marie Jose H van den Boogaard; Armand Bottani; Marco Castori; Valerie Cormier Daire; Matthew A Deardorff; Isabel Filges; Alan Fryer; Jean Pierre Fryns; Simone Gana; Livia Garavelli; Gabriele Gillessen Kaesbach; Bryan D Hall; Denise Horn; Danny Huylebroeck; Jakub Klapecki; Malgorzata Krajewska Walasek; Alma Kuechler; Matthew A Lines; Saskia Maas; Kay D MacDermot; Shane McKee; Alex Magee; Stella A de Man; Yves Moreau; Fanny Morice Picard; Ewa Obersztyn; Jacek Pilch; Elizabeth Rosser; Nora Shannon; Irene Stolte Dijkstra; Patrick Van Dijck; Catheline Vilain; Annick Vogels; Emma Wakeling; Dagmar Wieczorek; Louise Wilson; Orsetta Zuffardi; Antoine H C van Kampen; Koenraad Devriendt; Raoul Hennekam; Joris Robert Vermeesch; ...Mais
PUBLICAÇÃO: 2012, FONTE: NATURE GENETICS, VOLUME: 44, NÚMERO: 4

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