Sergio Abilio Teixeira Bernardo Sousa
AuthID: R-002-K43
41
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
42
TITLE: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice Full Text
AUTHORS: Joe Rainger; Ellen van Beusekom; Jacqueline K Ramsay; Lisa McKie; Lihadh Al Gazali; Rosanna Pallotta; Anita Saponari; Peter Branney; Malcolm Fisher; Harris Morrison; Louise Bicknell; Philippe Gautier; Paul Perry; Kishan Sokhi; David Sexton; Tanya M Bardakjian; Adele S Schneider; Nursel Elcioglu; Ferda Ozkinay; Rainer Koenig; ...More
PUBLISHED: 2011, SOURCE: PLOS GENETICS, VOLUME: 7, ISSUE: 7
AUTHORS: Joe Rainger; Ellen van Beusekom; Jacqueline K Ramsay; Lisa McKie; Lihadh Al Gazali; Rosanna Pallotta; Anita Saponari; Peter Branney; Malcolm Fisher; Harris Morrison; Louise Bicknell; Philippe Gautier; Paul Perry; Kishan Sokhi; David Sexton; Tanya M Bardakjian; Adele S Schneider; Nursel Elcioglu; Ferda Ozkinay; Rainer Koenig; ...More
PUBLISHED: 2011, SOURCE: PLOS GENETICS, VOLUME: 7, ISSUE: 7
43
TITLE: Expanding the Skeletal Phenotype of Loeys-Dietz Syndrome Full Text
AUTHORS: Sergio B Sousa; Karen Lambot Juhan; Marlene Rio; Genevieve Baujat; Vicken Topouchian; Nadine Hanna; Martine Le Merrer; Francis Brunelle; Arnold Munnich; Catherine Boileau; Valerie Cormier Daire;
PUBLISHED: 2011, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 155A, ISSUE: 5
AUTHORS: Sergio B Sousa; Karen Lambot Juhan; Marlene Rio; Genevieve Baujat; Vicken Topouchian; Nadine Hanna; Martine Le Merrer; Francis Brunelle; Arnold Munnich; Catherine Boileau; Valerie Cormier Daire;
PUBLISHED: 2011, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 155A, ISSUE: 5
44
TITLE: Postnatal Growth Retardation, Facial Dysmorphism, Spondylocarpal Synostosis, Cardiac Defect, and Inner Ear Malformation (Cardiospondylocarpofacial Syndrome?)-A Distinct Syndrome? Full Text
AUTHORS: Sergio B Sousa; Genevieve Baujat; Veronique Abadie; Damien Bonnet; Daniel Sidi; Arnold Munnich; Deborah Krakow; Valerie Cormier Daire;
PUBLISHED: 2010, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 152A, ISSUE: 3
AUTHORS: Sergio B Sousa; Genevieve Baujat; Veronique Abadie; Damien Bonnet; Daniel Sidi; Arnold Munnich; Deborah Krakow; Valerie Cormier Daire;
PUBLISHED: 2010, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 152A, ISSUE: 3
45
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
46
TITLE: Further Delineation of Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy Full Text
AUTHORS: Sergio B Sousa; Isabelle Russell Eggitt; Christine Hall; Bryan D Hall; Raoul C M Hennekam;
PUBLISHED: 2008, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 146A, ISSUE: 24
AUTHORS: Sergio B Sousa; Isabelle Russell Eggitt; Christine Hall; Bryan D Hall; Raoul C M Hennekam;
PUBLISHED: 2008, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 146A, ISSUE: 24
47
TITLE: Pitt-Hopkins syndrome - clinical report
AUTHORS: Sergio Sousa; Cabral, A; Zweier, C; Venancio, M; Rauch, A; Saraiva, J;
PUBLISHED: 2007, SOURCE: British Human Genetics Conference in JOURNAL OF MEDICAL GENETICS, VOLUME: 44
AUTHORS: Sergio Sousa; Cabral, A; Zweier, C; Venancio, M; Rauch, A; Saraiva, J;
PUBLISHED: 2007, SOURCE: British Human Genetics Conference in JOURNAL OF MEDICAL GENETICS, VOLUME: 44
INDEXED IN: 
WOS
WOS48
TITLE: Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
AUTHORS: Christiane Zweier; Maarit M Peippo; Juliane Hoyer; Sergio Sousa; Armand Bottani; Jill Clayton Smith; William Reardon; Jorge Saraiva; Alexandra Cabral; Ina Goehring; Koen Devriendt; Thomy de Ravel; Emilia K Bijlsma; Raoul C M Hennekam; Alfredo Orrico; Monika Cohen; Alexander Dreweke; Andre Reis; Peter Nuernberg; Anita Rauch;
PUBLISHED: 2007, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 80, ISSUE: 5
AUTHORS: Christiane Zweier; Maarit M Peippo; Juliane Hoyer; Sergio Sousa; Armand Bottani; Jill Clayton Smith; William Reardon; Jorge Saraiva; Alexandra Cabral; Ina Goehring; Koen Devriendt; Thomy de Ravel; Emilia K Bijlsma; Raoul C M Hennekam; Alfredo Orrico; Monika Cohen; Alexander Dreweke; Andre Reis; Peter Nuernberg; Anita Rauch;
PUBLISHED: 2007, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 80, ISSUE: 5
49
TITLE: Infrared study of the acidic and basic forms of betaxolol Full Text
AUTHORS: Joao Canotilho; Esteves de Castro, RA; Helena, M; Teixeira, SF; Luisa L P Leitao; Simoes Redinha, JS;
PUBLISHED: 2006, SOURCE: SPECTROCHIMICA ACTA PART A-MOLECULAR AND BIOMOLECULAR SPECTROSCOPY, VOLUME: 64, ISSUE: 2
AUTHORS: Joao Canotilho; Esteves de Castro, RA; Helena, M; Teixeira, SF; Luisa L P Leitao; Simoes Redinha, JS;
PUBLISHED: 2006, SOURCE: SPECTROCHIMICA ACTA PART A-MOLECULAR AND BIOMOLECULAR SPECTROSCOPY, VOLUME: 64, ISSUE: 2
50
TITLE: Introduction
AUTHORS: Teixeira, A; Tavares, AT ;
PUBLISHED: 2006, SOURCE: Multinationals, Clusters and Innovation: Does Public Policy Matter?
AUTHORS: Teixeira, A; Tavares, AT ;
PUBLISHED: 2006, SOURCE: Multinationals, Clusters and Innovation: Does Public Policy Matter?
INDEXED IN: 
Scopus
Scopus