Maria Teresa Cardoso Pereira Silva


AuthID: R-00J-QJ5

Confirmed Publications: 2



1
TITLE: Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants  Full Text
AUTHORS: Marisa Encarnação; Maria Francisca Coutinho; Lisbeth Silva; Diogo Ribeiro; Souad Ouesleti; Teresa Campos; Helena Santos; Esmeralda Martins ; Maria Teresa Cardoso ; Laura Vilarinho; Sandra Alves;
PUBLISHED: 2020, SOURCE: International Journal of Molecular Sciences, VOLUME: 21, ISSUE: 17
INDEXED IN: CrossRef: 4
IN MY: ORCID
2
TITLE: NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient
AUTHORS: Encarnação, M; Coutinho, MF; Cho, SM; Cardoso, MT ; Ribeiro, I; Chaves, P ; Santos, JI; Quelhas, D; Lacerda, L; Leão Teles, E; Futerman, AH; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: Molecular Genetics and Genomic Medicine, VOLUME: 8, ISSUE: 11
INDEXED IN: Scopus CrossRef: 8

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