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TITLE: Massively Parallel Sequencing of Ataxia Genes after Array-Based Enrichment  Full Text
AUTHORS: Alexander Hoischen; Christian Gilissen; Peer Arts; Nienke Wieskamp; Walter van der Vliet; Sascha Vermeer; Marloes Steehouwer; Petra de Vries; Rowdy Meijer; Jorge Seiqueros ; Nine V A M Knoers; Michael F Buckley; Hans Scheffer; Joris A Veltman;
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
62
TITLE: Nutrition and gastrointestinal disorders in Rett syndrome: Importance of early intervention
AUTHORS: Prior, C; Nunes, A; Rios, M; Sequeiros, J ; Maciel, P ; Gomes, L; Temudo, T;
PUBLISHED: 2010, SOURCE: ANALES DE PEDIATRIA, VOLUME: 72, ISSUE: 3
INDEXED IN: Scopus WOS
IN MY: ORCID
63
TITLE: Scope of definitions of genetic testing: Evidence from a EuroGentest survey
AUTHORS: Pinto Basto, J; Guimaraes, B; Rantanen, E; Javaher, P; Nippert, I; Cassiman, JJ; Kaariainen, H; Kristoffersson, U; Schmidtke, J; Sequeiros, J ;
PUBLISHED: 2010, SOURCE: Journal of Community Genetics, VOLUME: 1, ISSUE: 1
INDEXED IN: Scopus
IN MY: ORCID
64
TITLE: Ancestral Origin of the ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10 (SCA10)  Full Text
AUTHORS: Teresa Almeida; Isabel Alonso ; Sandra Martins ; Eliana Marisa Ramos; Luisa Azevedo ; Kinji Ohno; Amorim, Antonio ; Maria Luiza Saraiva Pereira; Laura Bannach Jardim; Tohru Matsuura; Jorge Sequeiros ; Isabel Silveira ;
PUBLISHED: 2009, SOURCE: PLOS ONE, VOLUME: 4, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 37
IN MY: ORCID
65
TITLE: Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients  Full Text
AUTHORS: Anheim, M; Monga, B; Fleury, M; Charles, P; Barbot, C ; Salih, M; Delaunoy, JP; Fritsch, M; Arning, L; Synofzik, M; Schoels, L; Sequeiros, J ; Goizet, C; Marelli, C; Le Ber, I; Koht, J; Gazulla, J; De Bleecker, J; Mukhtar, M; Drouot, N; Ali Pacha, L; Benhassine, T; Chbicheb, M; M'Zahem, A; Hamri, A; Chabrol, B; Pouget, J; Murphy, R; Watanabe, M; Coutinho, P ; Tazir, M; Durr, A; Brice, A; Tranchant, C; Koenig, M; ...More
PUBLISHED: 2009, SOURCE: BRAIN, VOLUME: 132, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
66
TITLE: Direct to consumer genetic tests  Full Text
AUTHORS: Patch, C; Sequeiros, J ; Cornel, MC;
PUBLISHED: 2009, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 17, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
67
TITLE: Direct to consumer genetic tests (vol 17, pg 1111, 2009)  Full Text
AUTHORS: Christine Patch; Jorge Sequeiros ; Martina C Cornel;
PUBLISHED: 2009, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 17, ISSUE: 9
INDEXED IN: Scopus WOS
IN MY: ORCID
68
TITLE: Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment  Full Text
AUTHORS: Temudo, T; Rios, M; Prior, C; Carrilho, I; Santos, M; Maciel, P ; Sequeiros, J ; Fonseca, M; Monteiro, J; Cabral, P; Vieira, JP; Ormazabal, A; Artuch, R;
PUBLISHED: 2009, SOURCE: BRAIN & DEVELOPMENT, VOLUME: 31, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
69
TITLE: Expertise, empathy and ethical awareness: ideals of genetic counseling based on framing of genetic information in international guidelines  Full Text
AUTHORS: Elina Rantanen; Seppo Pontinen; Irmgard Nippert; Jorge Sequeiros ; Helena Kaariainen;
PUBLISHED: 2009, SOURCE: NEW GENETICS AND SOCIETY, VOLUME: 28, ISSUE: 4
INDEXED IN: WOS CrossRef
70
TITLE: Familial Clustering of Migraine: Further Evidence From a Portuguese Study  Full Text
AUTHORS: Carolina Lemos ; Maria Jose Castro; Barros, José ; Jorge Sequeiros ; Jose Pereira Monteiro ; Denisa Mendonca ; Alda Sousa ;
PUBLISHED: 2009, SOURCE: HEADACHE, VOLUME: 49, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 23
IN MY: ORCID
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