21
TITLE: Regarding the Article "Adults with Down Syndrome: Characterization of a Portuguese Sample"  Full Text
AUTHORS: Jorge M Saraiva;
PUBLISHED: 2014, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 27, ISSUE: 3
INDEXED IN: WOS
22
TITLE: Children and Adolescent Perfectionism Scale: Validation in a Portuguese Adolescent Sample  Full Text
AUTHORS: Carmen Bento; Ana Telma Pereira; Jorge Manuel Saraiva; Antonio Macedo;
PUBLISHED: 2014, SOURCE: PSICOLOGIA-REFLEXAO E CRITICA, VOLUME: 27, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 7
23
TITLE: Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update
AUTHORS: Ana Beleza Meireles; Jill Clayton Smith; Jorge M Saraiva; May Tassabehji;
PUBLISHED: 2014, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 51, ISSUE: 10
INDEXED IN: Scopus WOS
24
TITLE: Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
AUTHORS: Anna C Thomas; Hywel Williams; Nuria Seto Salvia; Chiara Bacchelli; Dagan Jenkins; Mary O'Sullivan; Konstantinos Mengrelis; Miho Ishida; Louise Ocaka; Estelle Chanudet; Chela James; Francesco Lescai; Glenn Anderson; Deborah Morrogh; Mina Ryten; Andrew J Duncan; Yun Jin Pai; Jorge M Saraiva; Fabiana Ramos; Bernadette Farren; Dawn Saunders; Bertrand Vernay; Paul Gissen; Anna Straatmaan Iwanowska; Frank Baas; Nicholas W Wood; Joshua Hersheson; Henry Houlden; Jane Hurst; Richard Scott; Maria Bitner Glindzicz; Gudrun E Moore; Sergio B Sousa; Philip Stanier; ...More
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 95, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 25
26
TITLE: Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism  Full Text
AUTHORS: Ana Beleza Meireles; Eunice Matoso; Lina Ramos; Joana B Melo ; Isabel M Carreira ; Eduardo D Silva ; Jorge M Saraiva;
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 161A, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 5
27
TITLE: Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approach  Full Text
AUTHORS: Patricia Horta Oliveira; Catarina Cunha; Susana Almeida; Ricardo Ferreira; Sofia Maia; Jorge Manuel Saraiva; Maria Francelina Lopes;
PUBLISHED: 2013, SOURCE: JOURNAL OF PEDIATRIC SURGERY, VOLUME: 48, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
28
TITLE: Non-syndromic Sensorineural Prelingual Deafness: The Importance of Genetic Counseling in Demystifying Parents' Beliefs About the Cause of Their Children's Deafness  Full Text
AUTHORS: Fidjy Rodrigues; Milena Paneque ; Claudia Reis; Margarida Venancio; Jorge Sequeiros ; Jorge Saraiva;
PUBLISHED: 2013, SOURCE: JOURNAL OF GENETIC COUNSELING, VOLUME: 22, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 4
29
TITLE: Intellectual Disability, Unusual Facial Morphology and Hand Anomalies in Sibs  Full Text
AUTHORS: Sergio B Sousa; Margarida Venancio; Estelle Chanudet; Rodger Palmer; Lina Ramos; Philip L Beales; Gudrun E Moore; Jorge M Saraiva; Raoul C Hennekam;
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 161, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
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