António Jorge dos Santos Pereira de Sequeiros


AuthID: R-000-23K

Confirmed Publications: 238



71
TITLE: First mutation in the voltage-gated Na(V)1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy  Full Text
AUTHORS: Castro, MJ; Stam, AH; Lemos, C ; de Vries, B; Vanmolkot, KRJ; Barros, José ; Terwindt, GM; Frants, RR; Sequeiros, J ; Ferrari, MD; Pereira Monteiro, JM ; van den Maagdenberg, AMJM;
PUBLISHED: 2009, SOURCE: CEPHALALGIA, VOLUME: 29, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
72
TITLE: Genetic horoscopes: is it all in the genes? Points for regulatory control of direct-to-consumer genetic testing  Full Text
AUTHORS: Christine Patch; Jorge Sequeiros ; Martina C Cornel;
PUBLISHED: 2009, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 17, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
73
TITLE: Huntington's disease-like 2 and apparent ancestry - Response to Tumas et al.  Full Text
AUTHORS: Sequeiros, J ; Santos, C; Laura B Jardim;
PUBLISHED: 2009, SOURCE: CLINICAL GENETICS, VOLUME: 75, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID
74
TITLE: Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families  Full Text
AUTHORS: Loureiro, JL ; Miller Fleming, L; Thieleke Matos, C; Magalhaes, P; Cruz, VT ; Coutinho, P ; Sequeiros, J ; Silveira, I ;
PUBLISHED: 2009, SOURCE: ACTA NEUROLOGICA SCANDINAVICA, VOLUME: 119, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 14
IN MY: ORCID
75
76
TITLE: Atypical stereotypies and vocal tics in Rett syndrome: An illustrative case  Full Text
AUTHORS: Teresa Temudo; Paula Freitas; Jorge Sequeiros ; Patricia Maciel ; Guiomar Oliveira ;
PUBLISHED: 2008, SOURCE: MOVEMENT DISORDERS, VOLUME: 23, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
77
TITLE: Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease  Full Text
AUTHORS: Sandra Martins ; Paula Coutinho ; Isabel Silveira ; Paola Giunti; Laura B Jardim; Francesc Calafell; Jorge Sequeiros ; Amorim, Antonio ;
PUBLISHED: 2008, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, VOLUME: 147B, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 20
IN MY: ORCID
78
TITLE: Erratum: Patenting and licensing in genetic testing: Recommendations of the European Society of Human Genetics (European Journal of Human Genetics) (2008) vol. 16 (405-411) 10.1038/sj.ejhg.5201929)  Full Text
AUTHORS: Ayme, S; Matthijs, G; Anastasiadou, V; Atalar, F; Braga, S; Burn, J; Cassiman, JJ; Cornel, M; Coviello, D; Evers Kiebooms, G; Gorry, P; Hodgson, S; Kaariainen, H; Kosztolanyi, G; Kristoffersson, U; Macek, M; Patch, C; Schmidtke, J; Sequeiros, J ; Stoppa Lyonnet, D; Tranebjaerg, L; van Heyningen, V; van Ommen, GJ; ...More
PUBLISHED: 2008, SOURCE: European Journal of Human Genetics, VOLUME: 16, ISSUE: 9
INDEXED IN: Scopus CrossRef
IN MY: ORCID
79
TITLE: EuroGentest: DNA-based testing for heritable disorders in Europe
AUTHORS: Poupak Javahera; Helena Kaariainen; Ulf Kristoffersson; Irmgard Nippert; Jorge Sequeiros ; Ron Zirnmern; Joerg Schmidtke;
PUBLISHED: 2008, SOURCE: COMMUNITY GENETICS, VOLUME: 11, ISSUE: 2
INDEXED IN: Scopus WOS
IN MY: ORCID
80
TITLE: Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias  Full Text
AUTHORS: Sara Seneca; Michael A Morris; Simon Patton; Rob Elles; Jorge Sequeiros ;
PUBLISHED: 2008, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 16, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
Page 8 of 24. Total results: 238.

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