Maria Leticia Sousa Ribeiro
AuthID: R-000-KT0
31
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
Scopus32
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
ORCID33
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
ORCID34
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
ORCID35
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
ORCID36
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
Scopus37
TITLE: Gene symbol: HBA1. Disease: Haemoglobin alpha 1.
AUTHORS: Vazao, H; Bento, C; Ribeiro, L;
PUBLISHED: 2005, SOURCE: Human genetics, VOLUME: 117, ISSUE: 2-3
AUTHORS: Vazao, H; Bento, C; Ribeiro, L;
PUBLISHED: 2005, SOURCE: Human genetics, VOLUME: 117, ISSUE: 2-3
INDEXED IN: Scopus
Scopus38
TITLE: Population genetics of four PKLR intragenic polymorphisms in Portugal and Sao Tome e Principe (Gulf of Guinea)
AUTHORS: Manco, L ; Oliveira, AL ; Gomes, C; Granjo, A; Trovoada, MD; Ribeiro, ML; Abade, A; Amorim, Antonio ;
PUBLISHED: 2001, SOURCE: HUMAN BIOLOGY, VOLUME: 73, ISSUE: 3
AUTHORS: Manco, L ; Oliveira, AL ; Gomes, C; Granjo, A; Trovoada, MD; Ribeiro, ML; Abade, A; Amorim, Antonio ;
PUBLISHED: 2001, SOURCE: HUMAN BIOLOGY, VOLUME: 73, ISSUE: 3
39
TITLE: Hereditary spherocytosis with total absence of band 3 in a baby with mutation Coimbra (V488M) in the homozygous state.
AUTHORS: Ribeiro, ML; Alloisio, N; Almeida, H; Texier, P; Lemos, C; Mimoso, C; Morle, L; BeyCabet, F; Rudigoz, RC; Delaunay, J; Tamagnini, G;
PUBLISHED: 1997, SOURCE: BLOOD, VOLUME: 90, ISSUE: 10
AUTHORS: Ribeiro, ML; Alloisio, N; Almeida, H; Texier, P; Lemos, C; Mimoso, C; Morle, L; BeyCabet, F; Rudigoz, RC; Delaunay, J; Tamagnini, G;
PUBLISHED: 1997, SOURCE: BLOOD, VOLUME: 90, ISSUE: 10
INDEXED IN: 
WOS
WOS40
TITLE: Genetic heterogeneity of beta-thalassemia in populations of the Iberian Peninsula
AUTHORS: Ribeiro, ML; Goncalves, P; Cunha, E; Bento, C; Almeida, H; Pereira, J; Nunez, GM; Tamagnini, GP;
PUBLISHED: 1997, SOURCE: HEMOGLOBIN, VOLUME: 21, ISSUE: 3
AUTHORS: Ribeiro, ML; Goncalves, P; Cunha, E; Bento, C; Almeida, H; Pereira, J; Nunez, GM; Tamagnini, GP;
PUBLISHED: 1997, SOURCE: HEMOGLOBIN, VOLUME: 21, ISSUE: 3
INDEXED IN: WOS 
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