41
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
INDEXED IN: Scopus WOS CrossRef: 3
42
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; Raoul C M Hennekam; ...More
PUBLISHED: 2009, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 149A, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 33
43
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
INDEXED IN: Scopus WOS CrossRef: 8
44
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
INDEXED IN: WOS
45
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
INDEXED IN: Scopus WOS CrossRef: 146
46
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
INDEXED IN: Scopus WOS CrossRef: 6
47
TITLE: Introduction
AUTHORS: Teixeira, A; Tavares, AT ;
PUBLISHED: 2006, SOURCE: Multinationals, Clusters and Innovation: Does Public Policy Matter?
INDEXED IN: Scopus
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