Irene Stolte Dijkstra
AuthID: R-00G-CE7
1
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
2
TITLE: Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis
AUTHORS: 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;
PUBLISHED: 2010, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 47, ISSUE: 3
AUTHORS: 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;
PUBLISHED: 2010, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 47, ISSUE: 3
3
TITLE: Nicolaides-Baraitser Syndrome: Delineation of the Phenotype Full Text
AUTHORS: 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; ...More
PUBLISHED: 2009, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 149A, ISSUE: 8
AUTHORS: 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; ...More
PUBLISHED: 2009, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 149A, ISSUE: 8
