82
TITLE: Haplotype analysis and phylogeny of ornithine transcarbamylase polymorphisms  Full Text
AUTHORS: Azevedo, L ; Calafell, F; Vilarinho, L; Amorim, Antonio ;
PUBLISHED: 2002, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 66, ISSUE: 5-6
INDEXED IN: Scopus WOS CrossRef
83
TITLE: Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis  Full Text
AUTHORS: Azevedo, L ; Vilarinho, L; Teles, EL; Amorim, Antonio ;
PUBLISHED: 2002, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 76, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 6
84
TITLE: Maternally inherited deafness associated with a T1095C mutation in the mDNA  Full Text
AUTHORS: Tessa, A; Giannotti, A; Tieri, L; Vilarinho, L; Marotta, G; Santorelli, FM;
PUBLISHED: 2001, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 9, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
85
TITLE: Clinical and molecular studies in three Portuguese mtDNA T8993G families  Full Text
AUTHORS: Vilarinho, L; Leao, E; Barbot, C ; Santos, M; Rocha, H; Santorelli, FM;
PUBLISHED: 2000, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 22, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
86
TITLE: MtDNA-related idiopathic dilated cardiomyopathy  Full Text
AUTHORS: Tessa, A; Vilarinho, L; Casali, C; Santorelli, FM;
PUBLISHED: 1999, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 7, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef
87
TITLE: The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families  Full Text
AUTHORS: Vilarinho, L; Santorelli, FM; Coelho, I; Rodrigues, L; Maia, M; Barata, I; Cabral, P; Dionisio, A; Costa, A; Guimaraes, A; DiMauro, S;
PUBLISHED: 1999, SOURCE: JOURNAL OF THE NEUROLOGICAL SCIENCES, VOLUME: 163, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
88
TITLE: Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes in Portugal: evidences for clinical heterogeneity  Full Text
AUTHORS: Vilarinho, L; Santorelli, FM; Coelho, I; Rodrigues, L; Maia, C; Cabral, P; Dionisio, A; Guimaraes, A; DiMauro, S;
PUBLISHED: 1998, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 6
INDEXED IN: WOS
89
TITLE: Mitochondrial DNA Analysis in Ocular Myopathy
AUTHORS: Laura Vilarinho; Filippo M Santorelli; Maria Luís Cardoso; Teresa Coelho; António Guimarães; Paula Coutinho;
PUBLISHED: 1998, SOURCE: European Neurology - Eur Neurol, VOLUME: 39, ISSUE: 3
INDEXED IN: CrossRef
90
TITLE: Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS  Full Text
AUTHORS: Santorelli, FM; Tanji, K; Kulikova, R; Shanske, S; Vilarinho, L; Hays, AP; DiMauro, S;
PUBLISHED: 1997, SOURCE: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, VOLUME: 238, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
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