Maria João Prata Martins Ribeiro


AuthID: R-000-BXM

Confirmed Publications: 151



51
TITLE: Sortilina e risco de doença cardiovascular
AUTHORS: Maria Francisca Coutinho; Mafalda Bourbon; Maria João Prata ; Sandra Alves;
PUBLISHED: 2013, SOURCE: Revista Portuguesa de Cardiologia, VOLUME: 32, ISSUE: 10
INDEXED IN: CrossRef: 5
IN MY: ORCID
52
TITLE: A method for the analysis of 32 X chromosome insertion deletion polymorphisms in a single PCR  Full Text
AUTHORS: Rui Pereira ; Vania Pereira; Iva Gomes; Carmen Tomas; Niels Morling; Amorim, Antonio ; Maria Joao Prata ; Angel Carracedo; Leonor Gusmao ;
PUBLISHED: 2012, SOURCE: INTERNATIONAL JOURNAL OF LEGAL MEDICINE, VOLUME: 126, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 40
IN MY: ORCID | ResearcherID
53
TITLE: A shortcut to the lysosome: The mannose-6-phosphate-independent pathway  Full Text
AUTHORS: Maria Francisca Coutinho; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2012, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 107, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 81
IN MY: ORCID | ResearcherID
54
TITLE: Alu-Alu recombination underlying the first large genomic deletion in GlcNAc-phosphotransferase alpha/beta (GNPTAB) gene in a MLII alpha/beta patient
AUTHORS: Maria Francisca Coutinho; Liliana da Silva Santos; Lúcia Lacerda; Sofia Quental; Flemming Wibrand; Allan M Lund; Klaus B Johansen; Maria João Prata ; Sandra Alves;
PUBLISHED: 2012, SOURCE: JIMD Reports, VOLUME: 4
INDEXED IN: Scopus CrossRef
IN MY: ORCID
55
TITLE: Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients  Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Macedo Ribeiro, S ; Baptista, E; Ribeiro, H; Prata, MJ ; Alves, S;
PUBLISHED: 2012, SOURCE: CLINICAL GENETICS, VOLUME: 81, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 10
IN MY: ORCID | ResearcherID
56
TITLE: Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction  Full Text
AUTHORS: Maria Francisca Coutinho; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2012, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 105, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 169
IN MY: ORCID | ResearcherID
57
TITLE: Mucolipidosis type II a/ss with a homozygous missense mutation in the GNPTAB gene  Full Text
AUTHORS: Maria Francisca Coutinho; Liliana da Silva Santos; Katta Mohan Girisha; Kapaettu Satyamoorthy; Lucia Lacerda; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 158A, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 10
IN MY: ORCID | ResearcherID
58
TITLE: Refining the genetic portrait of Portuguese Roma through X-chromosomal markers  Full Text
AUTHORS: Vania Pereira; Leonor Gusmao ; Cristina Valente; Rui Pereira ; Joao Carneiro ; Iva Gomes; Niels Morling; Amorim, Antonio ; Maria Joao Prata ;
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, VOLUME: 148, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 8
IN MY: ORCID | ResearcherID
59
TITLE: Genetic characterization of Somali and Iraqi populations using a set of 33 X-chromosome Indels  Full Text
AUTHORS: Pereira, V; Moncada, E; Diez, IE; Tomas, C; Amorim, Antonio ; Morling, N; Gusmao, L ; Prata, MJ ;
PUBLISHED: 2011, SOURCE: Forensic Science International: Genetics Supplement Series, VOLUME: 3, ISSUE: 1
INDEXED IN: Scopus CrossRef: 3
IN MY: ORCID
60
TITLE: Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity  Full Text
AUTHORS: Coutinho, MF; Encarnacao, M; Gomes, R; da Silva Santos, LDS; Martins, S ; Sirois Gagnon, D; Bargal, R; Filocamo, M; Raas Rothschild, A; Tappino, B; Laprise, C; Cury, GK; Schwartz, IV; Artigalas, O; Prata, MJ ; Alves, S;
PUBLISHED: 2011, SOURCE: CLINICAL GENETICS, VOLUME: 80, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 14
IN MY: ORCID | ResearcherID
Page 6 of 16. Total results: 151.

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