Maria Leticia Sousa Ribeiro
AuthID: R-000-KT0
31
TITLE: Nonsense-mediated mRNA decay (NMD) blockage promotes nonsense mRNA stabilization in protein 4.1R deficient cells carrying the 4.1R Coimbra variant of hereditary elliptocytosis Full Text
AUTHORS: Madeleine Morinière; François Delhommeau; Alain Calender; Leticia Ribeiro; Jean Delaunay; Faouzi Baklouti;
PUBLISHED: 2010, SOURCE: Blood Cells, Molecules, and Diseases, VOLUME: 45, ISSUE: 4
AUTHORS: Madeleine Morinière; François Delhommeau; Alain Calender; Leticia Ribeiro; Jean Delaunay; Faouzi Baklouti;
PUBLISHED: 2010, SOURCE: Blood Cells, Molecules, and Diseases, VOLUME: 45, ISSUE: 4
32
TITLE: Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency.
AUTHORS: Manco, L ; Ribeiro, ML;
PUBLISHED: 2009, SOURCE: Human genetics, VOLUME: 125, ISSUE: 3
AUTHORS: Manco, L ; Ribeiro, ML;
PUBLISHED: 2009, SOURCE: Human genetics, VOLUME: 125, ISSUE: 3
INDEXED IN: 
Scopus
Scopus33
TITLE: Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency.
AUTHORS: Manco, L ; Trovoada, MJ; Ribeiro, ML;
PUBLISHED: 2009, SOURCE: Human genetics, VOLUME: 125, ISSUE: 3
AUTHORS: Manco, L ; Trovoada, MJ; Ribeiro, ML;
PUBLISHED: 2009, SOURCE: Human genetics, VOLUME: 125, ISSUE: 3
INDEXED IN: Scopus
Scopus34
TITLE: Gene symbol: PKLR. Disease: Pyruvate kinase deficiency.
AUTHORS: Manco, L ; Relvas, L; Rebelo, U; Vidan, J; Ribeiro, ML;
PUBLISHED: 2008, SOURCE: Human genetics, VOLUME: 124, ISSUE: 3
AUTHORS: Manco, L ; Relvas, L; Rebelo, U; Vidan, J; Ribeiro, ML;
PUBLISHED: 2008, SOURCE: Human genetics, VOLUME: 124, ISSUE: 3
INDEXED IN: Scopus
Scopus35
TITLE: Novel human pathological mutations. Gene symbol: G6PD. Disease: glucose-6-phosphate dehydrogenase deficiency.
AUTHORS: Manco, L ; Ribeiro, ML;
PUBLISHED: 2007, SOURCE: Human genetics, VOLUME: 121, ISSUE: 5
AUTHORS: Manco, L ; Ribeiro, ML;
PUBLISHED: 2007, SOURCE: Human genetics, VOLUME: 121, ISSUE: 5
INDEXED IN: Scopus
Scopus36
TITLE: Novel human pathological mutations. Gene symbol: G6PD. Disease: glucose-6-phosphate dehydrogenase deficiency.
AUTHORS: Manco, L ; Ribeiro, ML;
PUBLISHED: 2007, SOURCE: Human genetics, VOLUME: 121, ISSUE: 5
AUTHORS: Manco, L ; Ribeiro, ML;
PUBLISHED: 2007, SOURCE: Human genetics, VOLUME: 121, ISSUE: 5
INDEXED IN: Scopus
Scopus IN MY: 
ORCID
ORCID37
TITLE: Novel human pathological mutations. Gene symbol: TPI1. Disease: triosephosphate isomerase deficiency.
AUTHORS: Manco, L ; Ribeiro, ML;
PUBLISHED: 2007, SOURCE: Human genetics, VOLUME: 121, ISSUE: 5
AUTHORS: Manco, L ; Ribeiro, ML;
PUBLISHED: 2007, SOURCE: Human genetics, VOLUME: 121, ISSUE: 5
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID38
TITLE: Human gene mutations. Gene symbol: RPS19. Disease: Diamond-Blackfan anaemia.
AUTHORS: Pereira, J; Molines, A; Ribeiro, ML;
PUBLISHED: 2007, SOURCE: Human genetics, VOLUME: 122, ISSUE: 2
AUTHORS: Pereira, J; Molines, A; Ribeiro, ML;
PUBLISHED: 2007, SOURCE: Human genetics, VOLUME: 122, ISSUE: 2
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID39
TITLE: Gene symbol: NT5C3. Disease: pyrimidine 5'-nucleotidase (P5'N) deficiency.
AUTHORS: Manco, L ; Ribeiro, ML;
PUBLISHED: 2006, SOURCE: Human genetics, VOLUME: 119, ISSUE: 6
AUTHORS: Manco, L ; Ribeiro, ML;
PUBLISHED: 2006, SOURCE: Human genetics, VOLUME: 119, ISSUE: 6
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID40
TITLE: Gene symbol: NT5C3. Disease: haemolytic anemia.
AUTHORS: Manco, L ; Pereira, J; Bento, MC; Ribeiro, ML;
PUBLISHED: 2005, SOURCE: Human genetics., VOLUME: 118, ISSUE: 3-4
AUTHORS: Manco, L ; Pereira, J; Bento, MC; Ribeiro, ML;
PUBLISHED: 2005, SOURCE: Human genetics., VOLUME: 118, ISSUE: 3-4
INDEXED IN: Scopus
Scopus