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Luísa Cristina da Costa Azevedo
AuthID:
R-000-9VD
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Document Source:
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Document Type:
All Document Types
Article (41)
Review (10)
Abstract (6)
Book Chapter (2)
Editorial Material (2)
Letter (1)
Proceedings Paper (1)
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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
30
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50
Confirmed Publications: 63
21
TITLE:
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening
Full Text
AUTHORS:
Fonseca, H;
Azevedo, L
; Serrano, C; Sousa, C; Marcao, A; Vilarinho, L;
PUBLISHED:
2016
,
SOURCE:
GENE,
VOLUME:
594,
ISSUE:
2
INDEXED IN:
Scopus
WOS
CrossRef
:
13
IN MY:
ORCID
22
TITLE:
Major influence of repetitive elements on disease-associated copy number variants (CNVs)
Full Text
AUTHORS:
Ana R Cardoso
;
Manuela Oliveira
;
Amorim, Antonio
;
Luisa Azevedo
;
PUBLISHED:
2016
,
SOURCE:
HUMAN GENOMICS,
VOLUME:
10,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
:
15
IN MY:
ORCID
23
TITLE:
Compensatory Evolution in Disease-Associated Genes
AUTHORS:
Luisa Azevedo
;
PUBLISHED:
2015
,
SOURCE:
eLS
INDEXED IN:
CrossRef
24
TITLE:
Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response
Full Text
AUTHORS:
Luisa Azevedo
;
Catarina Serrano
;
Amorim, Antonio
; David N Cooper;
PUBLISHED:
2015
,
SOURCE:
HUMAN GENOMICS,
VOLUME:
9,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
:
38
IN MY:
ORCID
25
TITLE:
NAMPT and NAPRT1: novel polymorphisms and distribution of variants between normal tissues and tumor samples
Full Text
AUTHORS:
Sara Duarte Pereira;
Sarah S Silva
;
Luisa Azevedo
;
Luisa Castro
;
Amorim, Antonio
;
Raquel M Silva
;
PUBLISHED:
2014
,
SOURCE:
SCIENTIFIC REPORTS,
VOLUME:
4
INDEXED IN:
Scopus
WOS
CrossRef
:
21
IN MY:
ORCID
26
TITLE:
The mitochondrial genome of the pinewood nematode (Bursaphelenchus xylophilus) lineage introduced in Europe
AUTHORS:
Claudia Moreira
;
Barbara van Asch
;
Luis Fonseca
;
Isabel Pereira Castro
;
Raquel Silva
;
Luisa Azevedo
;
Manuel Mota
;
Isabel Abrantes
;
Amorim, Antonio
;
Filipe Pereira
;
PUBLISHED:
2014
,
SOURCE:
MITOCHONDRIAL DNA,
VOLUME:
25,
ISSUE:
6
INDEXED IN:
Scopus
WOS
CrossRef
:
2
IN MY:
ORCID
27
TITLE:
Characterization of human NLZ1/ZNF703 identifies conserved domains essential for proper subcellular localization and transcriptional repression
Full Text
AUTHORS:
Isabel Pereira Castro
;
Angela M S Sousa Costa
;
Maria Jose Oliveira
; Ines Barbosa;
Ana Sofia Rocha
;
Luisa Azevedo
;
Luis Teixeira da Costa
;
PUBLISHED:
2013
,
SOURCE:
JOURNAL OF CELLULAR BIOCHEMISTRY,
VOLUME:
114,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
:
14
IN MY:
ORCID
|
ResearcherID
28
TITLE:
Frequency and Pattern of Heteroplasmy in the Complete Human Mitochondrial Genome
Full Text
AUTHORS:
Amanda Ramos
;
Cristina Santos
;
Ligia Mateiu
; Maria D del Mar Gonzalez;
Luis Alvarez
;
Luisa Azevedo
;
Amorim, Antonio
; Maria P Pilar Aluja;
PUBLISHED:
2013
,
SOURCE:
PLOS ONE,
VOLUME:
8,
ISSUE:
10
INDEXED IN:
Scopus
WOS
CrossRef
:
64
IN MY:
ORCID
29
TITLE:
Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome
Full Text
AUTHORS:
Celia Nogueira; Jorge Sales Marques;
Claudia Nesti
;
Luisa Azevedo
; Martina Di Lullo; Chiara C Meschini;
Antonio Orlacchio
; Filippo M Santorelli;
Laura Vilarinho
;
PUBLISHED:
2013
,
SOURCE:
MOLECULAR GENETICS AND METABOLISM,
VOLUME:
110,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
:
2
IN MY:
ORCID
30
TITLE:
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency
Full Text
AUTHORS:
Celia Nogueira;
Barros, José
;
Maria Jose Sa
;
Luisa Azevedo
;
Ricardo Taipa
; Alessandra Torraco; Maria Chiara Meschini;
Daniela Verrigni
;
Claudia Nesti
;
Teresa Rizza
;
Joao Teixeira
; Rosalba Carrozzo;
Manuel Melo Pires
;
Laura Vilarinho
; Filippo M Santorelli;
PUBLISHED:
2013
,
SOURCE:
NEUROGENETICS,
VOLUME:
14,
ISSUE:
2
INDEXED IN:
Scopus
WOS
CrossRef
:
39
IN MY:
ORCID
|
ResearcherID
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