Maria João Prata Martins Ribeiro


AuthID: R-000-BXM

Confirmed Publications: 143



71
TITLE: Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination  Full Text
AUTHORS: Quental, S ; Martins, E ; Vilarinho, L; Amorim, Antonio ; Joao Prata, MJ ;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31, ISSUE: S2
INDEXED IN: Scopus WOS CrossRef: 5
IN MY: ORCID | ResearcherID
72
TITLE: Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula  Full Text
AUTHORS: Mangas, M; Nogueira, C; Prata, MJ ; Lacerda, L; Coll, MJ; Soares, G; Ribeiro, G; Amaral, O; Ferreira, C; Alves, C; Coutinho, MF; Alves, S;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 73, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 14
IN MY: ORCID | ResearcherID
73
TITLE: Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community  Full Text
AUTHORS: Sofia Quental ; Sandra Macedo Ribeiro ; Raquel Matos; Laura Vilarinho; Esmeralda Martins ; Elisa Leao Teles; Esmeralda Rodrigues; Luisa Diogo; Paula Garcia; Filomena Eusebio; Ana Gaspar; Silvia Sequeira; Fatima Furtado; Isabel Lanca; Amorim, Antonio ; Maria Joao Prata ;
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 94, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 25
IN MY: ORCID | ResearcherID
74
TITLE: Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene  Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Prata, MJ ; Ribeiro, H; Lopes, L; Ferreira, C; Alves, S;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 74, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 13
IN MY: ORCID | ResearcherID
75
TITLE: Molecular characterization of Portuguese patients with pathologies related to the lysosomal multienzymatic complex: Sialidosis and galactosialidosis  Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Prata, MJ ; Ribeiro, H; Alves, S;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31
INDEXED IN: WOS
IN MY: ResearcherID
76
TITLE: Refining the analysis of Y-chromosomal diversity in Alentejo (Portugal)  Full Text
AUTHORS: Gomes, V ; Gusmao, L ; Portugal, L; Picarra, A; Amorim, Antonio ; Prata, MJ ;
PUBLISHED: 2008, SOURCE: Forensic Science International: Genetics Supplement Series, VOLUME: 1, ISSUE: 1
INDEXED IN: Scopus CrossRef: 1
IN MY: ORCID
77
TITLE: Y-chromosomal STR haplotypes in a Gypsy population from Portugal  Full Text
AUTHORS: Gusmao, A; Gusmao, L ; Gomes, V ; Alves, C; Amorim, Antonio ; Prata, MJ ;
PUBLISHED: 2008, SOURCE: Forensic Science International: Genetics Supplement Series, VOLUME: 1, ISSUE: 1
INDEXED IN: Scopus CrossRef
IN MY: ORCID
78
TITLE: Analysis of 10 X-STRs in three African populations  Full Text
AUTHORS: Iva Gomes; Cintia Alves; Karina Maxzud; Rui Pereira ; Maria Joao Prata ; Paula Sanchez Diz; Angel Carracedo; Amorim, Antonio ; Leonor Gusmao ;
PUBLISHED: 2007, SOURCE: DNA in Forensics 2006 in FORENSIC SCIENCE INTERNATIONAL-GENETICS, VOLUME: 1, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 22
IN MY: ORCID | ResearcherID
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