141
TÍTULO: Autosomal recessive ataxias: a new gene - aprataxin - responsible for ataxia-ocular apraxia 1, and a new locus on 9q34  Full Text
AUTORES: Moreira, MC; Klur, S; Barbot, C; Tachi, N; Bomont, P; Watanabe, M; Shoji, M; Warter, JM; Aubourg, P; Durr, A; Nemeth, AH; Amouri, R; Hentati, F; Alurkar, A; Divekar, D; Mendoca, P; Sequeiros, J ; Coutinho, P; Koenig, M;
PUBLICAÇÃO: 2002, FONTE: European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 10
INDEXADO EM: WOS
142
TÍTULO: Defining a psychological intervention program for women undergoing interruption of pregnancy after prenatal diagnosis.  Full Text
AUTORES: Rocha, J; Constança Paul ; Leonardo, A; Pitrez, J; Sequeiros, J ; Tavares, P;
PUBLICAÇÃO: 2002, FONTE: European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 10
INDEXADO EM: WOS
143
TÍTULO: Frataxin knockin mouse  Full Text
AUTORES: Miranda, CJ; Santos, MM ; Ohshima, K; Smith, J; Li, LT; Bunting, M; Cossee, M; Koenig, M; Sequeiros, J ; Kaplan, J; Pandolfo, M;
PUBLICAÇÃO: 2002, FONTE: FEBS LETTERS, VOLUME: 512, NÚMERO: 1-3
INDEXADO EM: Scopus WOS CrossRef: 131
NO MEU: ORCID
144
TÍTULO: Genetic and molecular study of migraine.
AUTORES: Castro, MJ; Alonso, I; Maciel, P; Sousa, A; Guimaraes, L ; Fraga, C; Barros, José ; Sequeiros, J ; Peieira Monteiro, J; Silveira, I;
PUBLICAÇÃO: 2002, FONTE: 52nd Annual Meeting of the American-Society-of-Human-Genetics in AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 71, NÚMERO: 4
INDEXADO EM: WOS
145
TÍTULO: Genomic structure, promoter activity and developmental expression of the mouse homologue of the Machado-Joseph disease gene
AUTORES: Costa, MC; Miranda, C; Tessaro, M; Sequeiros, J ; Santos, MM ; Maciel, P;
PUBLICAÇÃO: 2002, FONTE: 52nd Annual Meeting of the American-Society-of-Human-Genetics in AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 71, NÚMERO: 4
INDEXADO EM: Scopus WOS CrossRef
NO MEU: ORCID
146
TÍTULO: Haplotypes in five Portuguese DRPLA families  Full Text
AUTORES: Silveira, I; Matama, T; Martins, S; Guimaraes, L ; Sequeiros, J ;
PUBLICAÇÃO: 2002, FONTE: European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 10
INDEXADO EM: WOS
147
TÍTULO: Identification of three novel polymorphisms in the MJD1 gene and study of their frequency in the Portuguese population
AUTORES: Costa, MD; Sequeiros, J ; Maciel, P ;
PUBLICAÇÃO: 2002, FONTE: JOURNAL OF HUMAN GENETICS, VOLUME: 47, NÚMERO: 4
INDEXADO EM: Scopus WOS CrossRef: 3
NO MEU: ORCID
148
TÍTULO: Life events and psychological risk in individuals entering the protocol of pre-symptomatic testing for FAP-TTRMet30.  Full Text
AUTORES: Albuquerque, S; Sequeiros, J ; Constança Paul ;
PUBLICAÇÃO: 2002, FONTE: European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 10
INDEXADO EM: WOS
149
TÍTULO: Mutation in the PAX9 gene and absence of mutations in MSX1 gene in Portuguese families with hypodontia.
AUTORES: Seada, PMP; Pinho, T; Pollman, C; Sequeiros, J ; Tavares, P; Maciel, P;
PUBLICAÇÃO: 2002, FONTE: 52nd Annual Meeting of the American-Society-of-Human-Genetics in AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 71, NÚMERO: 4
INDEXADO EM: WOS
150
TÍTULO: Prenatal diagnosis (PND) in adult-onset disorders: survey of cases and attitudes in Portugal.  Full Text
AUTORES: Sequeiros, J ; Rocha, J; Pinto Basto, J; Loureiro, JL; Coelho, T; Lopes, A;
PUBLICAÇÃO: 2002, FONTE: European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 10
INDEXADO EM: WOS
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