Maria João Prata Martins Ribeiro


AuthID: R-000-BXM

Confirmed Publications: 143



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TITLE: Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta
AUTHORS: Maria Francisca Coutinho; Marisa Encarnacao; Francisco Laranjeira ; Lucia Lacerda; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2016, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 29, ISSUE: 10
INDEXED IN: WOS CrossRef: 3
IN MY: ORCID
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TITLE: Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II
AUTHORS: Liliana Matos; Vânia Gonçalves; Eugénia Pinto; Francisco Laranjeira ; Maria João Prata ; Peter Jordan; Lourdes R Desviat; Belén Pérez; Sandra Alves;
PUBLISHED: 2015, SOURCE: Data in Brief, VOLUME: 5
INDEXED IN: CrossRef: 4
IN MY: ORCID
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TITLE: Enriching the knowledge on East Asia populations: Characterization of male lineages from Macau and Shanghai  Full Text
AUTHORS: Guilherme Alexandre, JG; Qi Huang; Marques, SL; Lopez Parra, AM; Arroyo Pardo, E; Amorim, Antonio ; Alvarez, L; Prata, MJ ;
PUBLISHED: 2015, SOURCE: FORENSIC SCIENCE INTERNATIONAL GENETICS SUPPLEMENT SERIES, VOLUME: 5
INDEXED IN: Scopus WOS CrossRef
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TITLE: Exploring the relationship between lifestyles, diets and genetic adaptations in humans  Full Text
AUTHORS: Cristina Valente; Luis Alvarez; Sarah J Marks; Ana M Lopez Parra; Walther Parson; Ockie Oosthuizen; Erica Oosthuizen; Amorim, Antonio ; Cristian Capelli; Eduardo Arroyo Pardo; Leonor Gusmao; Maria J Prata ;
PUBLISHED: 2015, SOURCE: BMC GENETICS, VOLUME: 16, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 13
IN MY: ORCID
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TITLE: Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II  Full Text
AUTHORS: Liliana Matos; Vania Goncalves; Eugenia Pinto; Francisco Laranjeira ; Maria Joao Prata ; Peter Jordan; Lourdes R Desviat; Belen Perez; Sandra Alves;
PUBLISHED: 2015, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, VOLUME: 1852, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef: 11
IN MY: ORCID
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TITLE: Mirandese language and genetic differentiation in Iberia: a study using X chromosome markers
AUTHORS: Pinto, JC; Pereira, V; Marques, SL; Amorim, Antonio ; Alvarez, L; Prata, MJ ;
PUBLISHED: 2015, SOURCE: ANNALS OF HUMAN BIOLOGY, VOLUME: 42, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 8
IN MY: ORCID
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TITLE: Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking. Analyses of M6P-independent trafficking genes  Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Pinto, E; Ribeiro, H; Macedo Ribeiro, S; Castro, L; Prata, MJ ; Alves, S;
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 88, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 3
IN MY: ORCID
Page 3 of 15. Total results: 143.

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