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Maria Teresa Cardoso Pereira Silva
AuthID:
R-00J-QJ5
Publications
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Article (4)
Year Start - End:
2018
2019
2020
2021
2022
2023
2024
-
2024
2023
2022
2021
2020
2019
2018
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Confirmed Publications: 4
1
TITLE:
Las enfermedades raras en Portugal desde la perspectiva de medicina interna
AUTHORS:
Maria Teresa Cardoso
;
PUBLISHED:
2021
,
SOURCE:
Galicia Clínica,
VOLUME:
82,
ISSUE:
Supl 1
INDEXED IN:
CrossRef
IN MY:
ORCID
2
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
3
TITLE:
Cutaneous angiosarcoma in an unusual location and without predisposing factors
AUTHORS:
Monteiro, AO; Ferreira, IB; César, A;
Mota, A
; Pinheiro, J; Lopes, JM;
Cardoso, MT
;
PUBLISHED:
2020
,
SOURCE:
European Journal of Case Reports in Internal Medicine,
VOLUME:
7,
ISSUE:
12
INDEXED IN:
Scopus
CrossRef
IN MY:
ORCID
4
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
:
12
IN MY:
ORCID
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