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Maria Teresa Cardoso Pereira Silva
AuthID:
R-00J-QJ5
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Article (2)
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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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