Portal de Periódicos da CAPES

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

2012; Nature Portfolio; Volume: 44; Issue: 4 Linguagem: Inglês

10.1038/ng.1105

1546-1718

J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa, Barbera D. C. van Schaik, Eve Seuntjens, Nelson Avonce, Alejandro Sifrim, Omar Abdul‐Rahman, Marie-José H. van den Boogaard, Armand Bottani, Marco Castori, Valérie 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, Małgorzata Krajewska‐Walasek, Alma Kuechler, Matthew A. Lines, Saskia M. Maas, Kay MacDermot, Shane McKee, Alex Magee, de Man, Yves Moreau, Fanny Morice‐Picard, Ewa Obersztyn, Jacek Pilch, Elizabeth C. Rosser, Nora Shannon, Irene Stolte‐Dijkstra, Patrick Van Dijck, Catheline Vilain, Annick Vogels, Emma Wakeling, Dagmar Wieczorek, Louise C. Wilson, Orsetta Zuffardi, Antoine H. C. van Kampen, Koenraad Devriendt, Raoul C. M. Hennekam, Joris Vermeesch,

Advanced biosensing and bioanalysis techniques