Luísa Cristina da Costa Azevedo


AuthID: R-000-9VD

Confirmed Publications: 70



51
TITLE: Evolutionary History and Functional Diversification of Phosphomannomutase Genes  Full Text
AUTHORS: Rita Quental; Ana Moleirinho; Luisa Azevedo ; Amorim, Antonio ;
PUBLISHED: 2010, SOURCE: JOURNAL OF MOLECULAR EVOLUTION, VOLUME: 71, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 11
IN MY: ORCID | ResearcherID
52
TITLE: Identification of novel L2HGDH gene mutations and update of the pathological spectrum  Full Text
AUTHORS: Vilarinho, L; Tafulo, S; Sibilio, M; Kok, F; Fontana, F; Diogo, L; Venancio, M; Ferreira, M; Nogueira, C; Valongo, C; Parenti, G; Amorim, Antonio ; Azevedo, L ;
PUBLISHED: 2010, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 55, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
53
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 | ResearcherID
54
55
TITLE: Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene  Full Text
AUTHORS: Quental, R; Azevedo, L ; Rubio, V; Diogo, L; Amorim, Antonio ;
PUBLISHED: 2009, SOURCE: CLINICAL GENETICS, VOLUME: 75, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 22
IN MY: ORCID | ResearcherID
56
TITLE: GTP cyclohydrolase deficiency: Report of a family with atypical clinical features  Full Text
AUTHORS: Duarte, S; Calado, E; Nogueira, C; Gaspar, P; Azevedo, L ; Vilarinho, L;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31
INDEXED IN: WOS
57
TITLE: Late onset carbamoylphosphate synthetase deficiency  Full Text
AUTHORS: Ferreira, AC; Moco, C; Quental, R; Azevedo, L ; Sequeira, S;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31
INDEXED IN: WOS
58
TITLE: Ornithine transcarbamylase deficiency: Phenotype and genotype characterization in 25 patients - Experience from a Portuguese tertiary center  Full Text
AUTHORS: Teles E Leao; Rodrigues, E; Soares, S; Trindade, E; Vilarinho, L; Cardoso, ML; Azevedo, L ;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31
INDEXED IN: WOS
59
60
TITLE: In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model
AUTHORS: Gianpaolo Suriano; Luisa Azevedo ; Marta Novais; Barbara Boscolo; Raquel Seruca ; Amorim, Antonio ; Elena Maria Ghibaudi;
PUBLISHED: 2007, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 16, ISSUE: 18
INDEXED IN: Scopus WOS CrossRef: 14
IN MY: ORCID | ResearcherID
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