Maria João Prata Martins Ribeiro


AuthID: R-000-BXM

Confirmed Publications: 151



81
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
82
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
83
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
84
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
85
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
86
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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89
TITLE: Methylenetetrahydrofolate reductase and methionine synthase polymorphisms and risk of bladder cancer in a Tunisian population  Full Text
AUTHORS: Slah Ouerhani; Elisabete Oliveira; Raja Marrakchi; Mohamed R Ben Slama; Mohamed Sfaxi; Mohsen Ayed; Mohamed Chebil; Amorim, Antonio ; Amel Benammar El Gaaied; Maria Joao Prata ;
PUBLISHED: 2007, SOURCE: CANCER GENETICS AND CYTOGENETICS, VOLUME: 176, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 25
IN MY: ORCID | ResearcherID
90
TITLE: Molecular characterization of maple syrup urine disease Portuguese patients  Full Text
AUTHORS: Quental, S ; Matos, R; Vilarinho, L; Martins, E; Teles E Leco; Rodrigues, E; Diogo, L; Garcia, P; Eusebio, F; Gaspar, A; Sequeira, S; Furtado, F; Lanca, I; Amorim, Antonio ; Prata, MJ ;
PUBLISHED: 2007, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 30
INDEXED IN: WOS
IN MY: ResearcherID
Page 9 of 16. Total results: 151.

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