Browsing by Author Vilarinho, L

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Showing results 1 to 5 of 5
Issue DateTitleAuthor(s)Type
2020Molecular characterization of a novel splicing mutation underlying mucopolysaccharidosis (MPS) type VI—Indirect proof of principle on its pathogenicityCoutinho, MF; Encarnação, M; Matos, L; Silva, L; Ribeiro, D; Santos, JI; João Prata, M; Vilarinho, L; Alves, SArtigo em Revista Científica Internacional
2005MtDNA single macrodeletions associated with myopathies: absence of haplogroup-related increased riskGoios, A; Nogueira, C; Pereira, C; Vilarinho, L; Amorim, A; Pereira, LArtigo em Revista Científica Internacional
2021Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analysesFerreira, F; Azevedo, L; Neiva, R; Sousa, C; Fonseca, H; Marcão, A; Rocha, H; Carmona, C; Ramos, S; Bandeira, A; Martins, E; Campos, T; Rodrigues, E; Garcia, P; Diogo, L; Ferreira, AC; Sequeira, S; Silva, F; Rodrigues, L; Gaspar, A; Janeiro, P; Amorim, A; Vilarinho, LArtigo em Revista Científica Internacional
2005Strenuous exercise aggravates MDMA-induced skeletal muscle damage in miceDuarte, JA; Leao, A; Magalhaes, J; Ascensao, A; Bastos, ML; Amado, FL; Vilarinho, L; Quelhas, D; Appell, HJ; Carvalho, FArtigo em Revista Científica Internacional
2021The cdh1 c.1901c>t variant: A founder variant in the portuguese population with severe impact in mrna splicingBarbosa-Matos, R; Leal Silva, R; Garrido, L; Aguiar, AC; Garcia-Pelaez, J; André, A; Seixas, S; Sousa, SP; Ferro, L; Vilarinho, L; Gullo, I; Devezas, V; Oliveira, R; Fernandes, S; Costa, SC; Magalhães, A; Baptista, M; Carneiro, F; Pinheiro, H; Castedo, S; Oliveira, CArtigo em Revista Científica Internacional