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TÍTULO: 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
INDEXADO EM: Scopus WOS CrossRef: 100
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TÍTULO: Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis
AUTORES: Yvonne J Vos; Hermien E K de Walle; Krista K Bos; Jenneke A Stegeman; Annelies M ten Berge; Martijn Bruining; Merel C van Maarle; Mariet W Elting; Nicolette S den Hollander; Ben Hamel; Ana Maria Fortuna; Lone E M Sunde; Irene Stolte Dijkstra; Connie T R M Schrander Stumpel; Robert M W Hofstra;
PUBLICAÇÃO: 2010, FONTE: JOURNAL OF MEDICAL GENETICS, VOLUME: 47, NÚMERO: 3
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Nicolaides-Baraitser Syndrome: Delineation of the Phenotype  Full Text
AUTORES: Sergio B Sousa; Omar A Abdul Rahman; Armand Bottani; Valerie Cormier Daire; Alan Fryer; Gabriele Gillessen Kaesbach; Denise Horn; Dragana Josifova; Alma Kuechler; Melissa Lees; Kay MacDermot; Alex Magee; Fanny Morice Picard; Elizabeth Rosser; Ajoy Sarkar; Nora Shannon; Irene Stolte Dijkstra; Alain Verloes; Emma Wakeling; Louise Wilson; Raoul C M Hennekam; ...Mais
PUBLICAÇÃO: 2009, FONTE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 149A, NÚMERO: 8
INDEXADO EM: Scopus WOS CrossRef: 33