41
TITLE: The Challenges of Incorporating Genetic Testing in the Unified National Health System in Brazil
AUTHORS: Debora Gusmao Melo; Jorge Sequeiros ;
PUBLISHED: 2012, SOURCE: GENETIC TESTING AND MOLECULAR BIOMARKERS, VOLUME: 16, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
42
TITLE: The wide variation of definitions of genetic testing in international recommendations, guidelines and reports
AUTHORS: Sequeiros, J ; Paneque, M ; Guimaraes, B; Rantanen, E; Javaher, P; Nippert, I; Schmidtke, J; Kaariaainen, H; Kristoffersson, U; Cassiman, JJ;
PUBLISHED: 2012, SOURCE: Journal of Community Genetics, VOLUME: 3, ISSUE: 2
INDEXED IN: Scopus CrossRef: 13
IN MY: ORCID
44
TITLE: Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?  Full Text
AUTHORS: Emmel, VE; Alonso, I ; Jardim, LB; Saraiva Pereira, ML; Sequeiros, J ;
PUBLISHED: 2011, SOURCE: CLINICAL GENETICS, VOLUME: 79, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
45
TITLE: Epidemiology and population genetics of degenerative ataxias
AUTHORS: Sequeiros, J ; Martins, S ; Silveira, I ;
PUBLISHED: 2011, SOURCE: Handbook of Clinical Neurology, VOLUME: 103
INDEXED IN: Scopus CrossRef: 51
IN MY: ORCID
46
TITLE: FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes  Full Text
AUTHORS: Seixas, AI; Vale, J; Jorge, P; Marques, I; Santos, R; Alonso, I ; Fortuna, AM; Pinto Basto, J; Coutinho, P ; Margolis, RL; Sequeiros, J ; Silveira, I ;
PUBLISHED: 2011, SOURCE: BEHAVIORAL AND BRAIN FUNCTIONS, VOLUME: 7, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
47
TITLE: Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities Background Document to the ESHG recommendations on genetic testing and common disorders  Full Text
AUTHORS: Frauke Becker; Carla G van El; Dolores Ibarreta; Eleni Zika; Stuart Hogarth; Pascal Borry; Anne Cambon Thomsen; Jean Jacques Cassiman; Gerry Evers Kiebooms; Shirley Hodgson; Cecile C J W Janssens; Helena Kaariainen; Michael Krawczak; Ulf Kristoffersson; Jan Lubinski; Christine Patch; Victor B Penchaszadeh; Andrew Read; Wolf Rogowski; Jorge Sequeiros ; Lisbeth Tranebjaerg; Irene M van Langen; Helen Wallace; Ron Zimmern; Joerg Schmidtke; Martina C Cornel; ...More
PUBLISHED: 2011, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 19, ISSUE: SUPPL. 1
INDEXED IN: Scopus WOS
48
TITLE: Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes  Full Text
AUTHORS: Temudo, T; Santos, M; Ramos, E ; Dias, K; Vieira, JP; Moreira, A; Calado, E; Carrilho, I; Oliveira, G ; Levy, A; Barbot, C ; Fonseca, M; Cabral, A; Cabral, P; Monteiro, J; Borges, L; Gomes, R; Mira, G; Pereira, SA; Santos, M; Fernandes, A ; Epplen, JT; Sequeiros, J ; Maciel, P ; ...More
PUBLISHED: 2011, SOURCE: BRAIN & DEVELOPMENT, VOLUME: 33, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
49
TITLE: The APOE epsilon 2 Allele Increases the Risk of Earlier Age at Onset in Machado-Joseph Disease
AUTHORS: Conceicao Bettencourt; Mafalda Raposo; Nadiya Kazachkova ; Teresa Cymbron ; Cristina Santos; Teresa Kay; Joao Vasconcelos; Patricia Maciel ; Karina C Donis; Maria Luiza Saraiva Pereira; Laura B Jardim; Jorge Sequeiros ; Manuela Lima ;
PUBLISHED: 2011, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 68, ISSUE: 12
INDEXED IN: Scopus WOS
IN MY: ORCID
50
TITLE: Y-STR haplotypes in three ethnic linguistic groups of Angola population
AUTHORS: Miguel Manuel Melo; Monica Carvalho; Virginia Lopes; Maria Joao Anjos; Armando Serra; Duarte Nuno Vieira ; Jorge Sequeiros ; Francisco Corte Real ;
PUBLISHED: 2011, SOURCE: FORENSIC SCIENCE INTERNATIONAL-GENETICS, VOLUME: 5, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 4
IN MY: ORCID
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