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TITLE: Effectiveness of cochlear implants in children: Long term results  Full Text
AUTHORS: Maria Conceicao Peixoto; Jorge Spratley ; Guiomar Oliveira ; Jorge Martins; Jose Bastos; Carlos Ribeiro;
PUBLISHED: 2013, SOURCE: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, VOLUME: 77, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 30
IN MY: ORCID
3
TITLE: CNVs leading to fusion transcripts in individuals with autism spectrum disorder  Full Text
AUTHORS: Richard Holt; Nuala H Sykes; Ines C Conceicao; Jean Baptiste Cazier; Richard J L Anney; Guiomar Oliveira ; Louise Gallagher; Astrid Vicente ; Anthony P Monaco; Alistair T Pagnamenta;
PUBLISHED: 2012, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 20, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
4
TITLE: Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders  Full Text
AUTHORS: Claire S Leblond; Jutta Heinrich; Richard Delorme; Christian Proepper; Catalina Betancur; Guillaume Huguet; Marina Konyukh; Pauline Chaste; Elodie Ey; Maria Rastam; Henrik Anckarsater; Gudrun Nygren; Carina C Gillberg; Jonas Melke; Roberto Toro; Beatrice Regnault; Fabien Fauchereau; Oriane Mercati; Nathalie Lemiere; David Skuse; Martin Poot; Richard Holt; Anthony P Monaco; Irma Jarvela; Katri Kantojarvi; Raija Vanhala; Sarah Curran; David A Collier; Patrick Bolton; Andreas Chiocchetti; Sabine M Klauck; Fritz Poustka; Christine M Freitag; Regina Waltes; Marnie Kopp; Eftichia Duketis; Elena Bacchelli; Fiorella Minopoli; Liliana Ruta; Agatino Battaglia; Luigi Mazzone; Elena Maestrini; Ana F Sequeira; Barbara Oliveira; Astrid Vicente ; Guiomar Oliveira ; Dalila Pinto; Stephen W Scherer; Diana Zelenika; Marc Delepine; Mark Lathrop; Dominique Bonneau; Vincent Guinchat; Francoise Devillard; Brigitte Assouline; Marie Christine Mouren; Marion Leboyer; Christopher Gillberg; Tobias M Boeckers; Thomas Bourgeron; ...More
PUBLISHED: 2012, SOURCE: PLOS GENETICS, VOLUME: 8, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
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5
TITLE: Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes  Full Text
AUTHORS: Teresa Temudo; Monica Santos; Elisabete Ramos ; Karin Dias; Jose Pedro Vieira; Ana Moreira; Eulalia Calado; Ines Carrilho; Guiomar Oliveira ; Antonio Levy; Clara Barbot ; Maria Fonseca; Alexandra Cabral; Pedro Cabral; Jose Monteiro; Luis Borges; Roseli Gomes; Graca Mira; Susana Aires Pereira; Manuela Santos; Anabela Fernandes ; Jorg T Epplen; Jorge Sequeiros ; Patricia Maciel ; ...More
PUBLISHED: 2011, SOURCE: BRAIN & DEVELOPMENT, VOLUME: 33, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 17
IN MY: ORCID
6
TITLE: Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism  Full Text
AUTHORS: Correia, CT; Coutinho, AM; Sequeira, AF; Sousa, IG; Lourenco L O Venda; Almeida, JP; Abreu, RL; Lobo, C; Miguel, TS; Conroy, J; Cochrane, L; Gallagher, L; Gill, M; Ennis, S; Oliveira, GG ; Vicente, AM ;
PUBLISHED: 2010, SOURCE: GENES BRAIN AND BEHAVIOR, VOLUME: 9, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 82
IN MY: ORCID
7
TITLE: Pharmacogenetics of risperidone therapy in autism: association analysis of eight candidate genes with drug efficacy and adverse drug reactions  Full Text
AUTHORS: Correia, CT; Almeida, JP; Santos, PE; Sequeira, AF; Marques, CE; Miguel, TS; Abreu, RL; Oliveira, GG ; Vicente, AM ;
PUBLISHED: 2010, SOURCE: PHARMACOGENOMICS JOURNAL, VOLUME: 10, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 49
IN MY: ORCID
9
TITLE: Mutations in the MECP2 Gene Are Not a Major Cause of Rett Syndrome-Like or Related Neurodevelopmental Phenotype in Male Patients
AUTHORS: Minica Santos; Teresa Temudo; Teresa Kay; Ines Carrilho; Ana Medeira; Helena Cabral; Roseli Gomes; Maria Teresa Lourenco; Margarida Venancio; Eulalia Calado; Ana Moreira; Guiomar Oliveira ; Patricia Maciel ;
PUBLISHED: 2009, SOURCE: JOURNAL OF CHILD NEUROLOGY, VOLUME: 24, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
10
TITLE: A 3.2Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia  Full Text
AUTHORS: Mette Gilling; Marlene Briciet Lauritsen; Morten Moller; Karen Friis Henriksen; Astrid Vicente ; Guiomar Oliveira ; Christina Cintin; Hans Eiberg; Paal Skyt Andersen; Ole Mors; Thomas Rosenberg; Karen Brondum Nielsen; Rodney M J Cotterill; Claes Lundsteen; Hans Hilger Ropers; Reinhard Ullmann; Iben Bache; Zeynep Tuemer; Niels Tommerup;
PUBLISHED: 2008, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 16, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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