I. Filges
AuthID: R-00G-CEX
1
TITLE: Phenotype and Genotype in Nicolaides-Baraitser Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS) Full Text
AUTHORS: 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; ...More
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, VOLUME: 166, ISSUE: 3
AUTHORS: 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; ...More
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, VOLUME: 166, ISSUE: 3
2
TITLE: Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome Full Text
AUTHORS: 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; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 4
AUTHORS: 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; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 4
