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António Jorge dos Santos Pereira de Sequeiros
AuthID:
R-000-23K
Publications
Confirmed
To Validate
Document Source:
All
Document Type:
All Document Types
Article (137)
Abstract (65)
Letter (12)
Review (6)
Proceedings Paper (5)
Article in Press (4)
Note (2)
Correction (2)
Editorial Material (2)
Biographical-Item (1)
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Order:
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Confirmed Publications: 236
61
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
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
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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