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Luísa Cristina da Costa Azevedo
AuthID:
R-000-9VD
Publications
Confirmed
To Validate
Document Source:
All
Document Type:
All Document Types
Article (46)
Review (11)
Abstract (6)
Book Chapter (3)
Editorial Material (2)
Letter (1)
Proceedings Paper (1)
Year Start - End:
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Order:
Year Dsc
Year Asc
Cit. WOS Dsc
IF WOS Dsc
Cit. Scopus Dsc
IF Scopus Dsc
Title Asc
Title Dsc
Results:
10
20
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50
Confirmed Publications: 70
1
TITLE:
A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum
Full Text
AUTHORS:
Baldo, Manuela Schubert;
Azevedo, Luisa
; Coelho, Margarida Paiva; Martins, Esmeralda; Vilarinho, Laura;
PUBLISHED:
2024
,
SOURCE:
DIAGNOSTICS,
VOLUME:
14,
ISSUE:
19
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
2
TITLE:
Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease
AUTHORS:
Lopes Marques, Monica
; Mort, Matthew;
Carneiro, Joao
; Azevedo, Antonio; Amaro, Andreia P.; Cooper, David N.;
Azevedo, Luisa
;
PUBLISHED:
2024
,
SOURCE:
HUMAN GENOMICS,
VOLUME:
18,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
:
1
IN MY:
ORCID
3
TITLE:
Naturally occurring genetic diseases caused by de novo variants in domestic animals
AUTHORS:
Azevedo, Luisa
; Amaro, Andreia P.; Niza Ribeiro, Joao; Lopes Marques, Monica;
PUBLISHED:
2024
,
SOURCE:
ANIMAL GENETICS,
VOLUME:
55,
ISSUE:
3
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
4
TITLE:
A partial duplication of an X-linked gene exclusive of a primate lineage (Macaca)
Full Text
AUTHORS:
Serrano, Catarina
;
Lopes Marques, Monica
;
Amorim, Antonio
;
Prata, Maria Joao
;
Azevedo, Luisa
;
PUBLISHED:
2023
,
SOURCE:
GENE,
VOLUME:
851
INDEXED IN:
WOS
CrossRef
IN MY:
ORCID
5
TITLE:
Using plants in forensics: State-of-the-art and prospects
Full Text
AUTHORS:
Oliveira, Manuela
;
Azevedo, Luisa
; Ballard, David; Branicki, Wojciech;
Amorim, Antonio
;
PUBLISHED:
2023
,
SOURCE:
PLANT SCIENCE,
VOLUME:
336
INDEXED IN:
Scopus
WOS
CrossRef
Unpaywall
IN MY:
ORCID
6
TITLE:
Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na(V)1.5)
AUTHORS:
Lopes Marques, Monica
;
Silva, Raquel
;
Serrano, Catarina
;
Gomes, Veronica
;
Cardoso, Ana
;
Prata, Maria Joao
;
Amorim, Antonio
;
Azevedo, Luisa
;
PUBLISHED:
2022
,
SOURCE:
PEERJ,
VOLUME:
10
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
7
TITLE:
Genetic modifiers in glycosylation pathways: Is there a link between PMM2 and PGM1?
AUTHORS:
Quelhas, Dulce
; Jaeken, Jaak;
Azevedo, Luisa
;
PUBLISHED:
2022
,
SOURCE:
JOURNAL OF INHERITED METABOLIC DISEASE,
VOLUME:
46,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
:
2
IN MY:
ORCID
8
TITLE:
Molecular Markers: An Overview of Data Published for Fungi over the Last Ten Years
AUTHORS:
Oliveira, Manuela
;
Azevedo, Luisa
;
PUBLISHED:
2022
,
SOURCE:
JOURNAL OF FUNGI,
VOLUME:
8,
ISSUE:
8
INDEXED IN:
Scopus
WOS
CrossRef
:
16
IN MY:
ORCID
9
TITLE:
Non-B DNA conformations analysis through molecular dynamics simulations
AUTHORS:
Pina, Andre F.;
Sérgio F. Sousa
;
Azevedo, Luisa
;
Carneiro, Joao
;
PUBLISHED:
2022
,
SOURCE:
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS,
VOLUME:
1866,
ISSUE:
12
INDEXED IN:
Scopus
WOS
CrossRef
:
3
IN MY:
ORCID
10
TITLE:
Assessing the effects of PMM2 variants on protein stability
Full Text
AUTHORS:
Quelhas, D
;
Carneiro, J
;
Lopes Marques, M
;
Jaeken, J
;
Martins, E
; Rocha, JF; Carla, SST; Ferreira, CR;
Sérgio F. Sousa
;
Azevedo, L
;
PUBLISHED:
2021
,
SOURCE:
MOLECULAR GENETICS AND METABOLISM,
VOLUME:
134,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
:
2
IN MY:
ORCID
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