181
TITLE: Genetic risk factors in pediatric ischemic stroke - a retrospective study.
AUTHORS: Ferro, A; Pinto Basto, J; Barreirinho, S; Santos, M; Barbot, C; Costa, E ; Sousa, A; Barbot, J; Sequeiros, J ; Maciel, P;
PUBLISHED: 2000, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 67, ISSUE: 4
INDEXED IN: WOS
182
TITLE: High germinal instability of the (CTG)(n) at the SCA8 locus of both expanded and normal alleles
AUTHORS: Silveira, I ; Alonso, I ; Guimaraes, L ; Mendonca, P; Santos, C; Maciel, P ; de Matos, JMF; Costa, M; Barbot, C ; Tuna, A; Barros, José ; Jardim, L; Coutinho, P ; Sequeiros, J ;
PUBLISHED: 2000, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 66, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 65
IN MY: ORCID
183
TITLE: Homozygosity mapping of ataxia-oculomotor apraxia locus 1 to chromosome 9 and evidence for genetic heterogeneity.
AUTHORS: Moreira, MC; Barbot, C; Mendonca, P; Miranda, C; Coutinho, P; Sequeiros, J ; Koenig, M;
PUBLISHED: 2000, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 67, ISSUE: 4
INDEXED IN: WOS
184
TITLE: Improvement of the method for molecular diagnosis of Machado-Joseph Disease.
AUTHORS: Costa, MC; Santos, C; Ferro, A; Sequeiros, J ; Maciel, P;
PUBLISHED: 2000, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 67, ISSUE: 4
INDEXED IN: WOS
185
TITLE: Trinucleotide Repeat Expansions implicated in SCA in a large group of families and isolated cases with ataxia.
AUTHORS: Silveira, I; Miranda, C; Moreira, MC; Mendonca, P; Alonso, I; Ferro, A; Poirier, J; Jardim, L; Barros, José ; Coutinho, P; Pandolfo, M; Sequeiros, J ;
PUBLISHED: 2000, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 67, ISSUE: 4
INDEXED IN: WOS
186
TITLE: Anticipation of age-at-onset in Portuguese patients with familial amyloid polyneuropathy-type I (FAP-Met30)
AUTHORS: Sousa, A; Coelho, T; Lobato, L; Sequeiros, J ;
PUBLISHED: 1999, SOURCE: VIIIth International Symposium on Amyloidosis in AMYLOID AND AMYLOIDOSIS 1998
INDEXED IN: WOS
187
TITLE: Discordant MZ twins in familial amyloid neuropathy (FAP)-TTRMet30.
AUTHORS: Sequeiros, J ; Pedrosa, JL; Coelho, T; Gusmao, L ; Seruca, R ; Amorim, Antonio ; Munar Ques, M;
PUBLISHED: 1999, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 65, ISSUE: 4
INDEXED IN: WOS
188
TITLE: Epidemiology of renal disease in the main focus of familiar amyloid polyneuropathy type I in Portugal
AUTHORS: Lobato, L; Guimaraes, SM; Beirao, I; Silva, M; Coelho, T; Barros, José ; Guimaraes, S; Sequeiros, J ; Sousa, A;
PUBLISHED: 1999, SOURCE: VIIIth International Symposium on Amyloidosis in AMYLOID AND AMYLOIDOSIS 1998
INDEXED IN: WOS
189
TITLE: Familiar amyloid polyneuropathy-type I (FAP-Met30) in Portugal: phenotypic variability and deviations from Mendelian inheritance
AUTHORS: Sousa, A; Coelho, T; Barros, José ; Ferreira, C; Lobato, L; Sequeiros, J ;
PUBLISHED: 1999, SOURCE: VIIIth International Symposium on Amyloidosis in AMYLOID AND AMYLOIDOSIS 1998
INDEXED IN: WOS
190
TITLE: In spite of being caused by a single point mutation, familial amyloid polyneuropathy (Val30Met) is not a simple Mendelian disorder.
AUTHORS: Sousa, A; Coelho, T; Lobato, L; Sequeiros, J ;
PUBLISHED: 1999, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 65, ISSUE: 4
INDEXED IN: WOS
Page 19 of 24. Total results: 240.