Browsing by Author Vilarinho, L
Showing results 1 to 5 of 5
Issue Date | Title | Author(s) | Type |
2020 | Molecular characterization of a novel splicing mutation underlying mucopolysaccharidosis (MPS) type VI—Indirect proof of principle on its pathogenicity | Coutinho, MF; Encarnação, M; Matos, L; Silva, L; Ribeiro, D; Santos, JI; João Prata, M; Vilarinho, L; Alves, S | Artigo em Revista Científica Internacional |
2005 | MtDNA single macrodeletions associated with myopathies: absence of haplogroup-related increased risk | Goios, A; Nogueira, C; Pereira, C; Vilarinho, L; Amorim, A; Pereira, L | Artigo em Revista Científica Internacional |
2021 | Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses | Ferreira, 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, L | Artigo em Revista Científica Internacional |
2005 | Strenuous exercise aggravates MDMA-induced skeletal muscle damage in mice | Duarte, JA; Leao, A; Magalhaes, J; Ascensao, A; Bastos, ML; Amado, FL; Vilarinho, L; Quelhas, D; Appell, HJ; Carvalho, F | Artigo em Revista Científica Internacional |
2021 | The cdh1 c.1901c>t variant: A founder variant in the portuguese population with severe impact in mrna splicing | Barbosa-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, C | Artigo em Revista Científica Internacional |