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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 (47)
Review (11)
Abstract (6)
Book Chapter (3)
Editorial Material (3)
Article in Press (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
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Confirmed Publications: 74
21
TITLE:
SLC35A2-CDG: Novel variant and review
AUTHORS:
Quelhas, D
; Correia, J;
Jaeken, J
;
Azevedo, L
;
Lopes Marques, M
; Bandeira, A;
Keldermans, L
; Matthijs, G; Sturiale, L;
Martins, E
;
PUBLISHED:
2021
,
SOURCE:
MOLECULAR GENETICS AND METABOLISM REPORTS,
VOLUME:
26
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
22
TITLE:
GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss during mammalian evolution
Full Text
AUTHORS:
Monica Lopes Marques
;
Catarina Serrano
;
Ana R Cardoso
; Renato Salazar;
Susana Seixas
;
Amorim, Antonio
;
Luisa Azevedo
;
Maria J Prata
;
PUBLISHED:
2020
,
SOURCE:
SCIENTIFIC REPORTS,
VOLUME:
10,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
:
1
IN MY:
ORCID
23
TITLE:
The Human Gene Mutation Database (HGMD(R)): optimizing its use in a clinical diagnostic or research setting
Full Text
AUTHORS:
Stenson, PD; Mort, M; Ball, EV; Chapman, M; Evans, K;
Azevedo, L
; Hayden, M; Heywood, S; Millar, DS; Phillips, AD; Cooper, DN;
PUBLISHED:
2020
,
SOURCE:
HUMAN GENETICS,
VOLUME:
139,
ISSUE:
10
INDEXED IN:
Scopus
WOS
CrossRef
:
320
IN MY:
ORCID
24
TITLE:
Bohler Angle and the Crucial Angle of Gissane in Paediatric Population
Full Text
AUTHORS:
Pombo, B;
Ferreira, AC
;
Costa, L
;
PUBLISHED:
2019
,
SOURCE:
CLINICAL MEDICINE INSIGHTS-ARTHRITIS AND MUSCULOSKELETAL DISORDERS,
VOLUME:
12
INDEXED IN:
Scopus
WOS
CrossRef
:
2
25
TITLE:
Essential genetic findings in neurodevelopmental disorders
Full Text
AUTHORS:
Ana R Cardoso
;
Monica Lopes Marques
;
Raquel M Silva
;
Catarina Serrano
;
Amorim, Antonio
;
Maria J Prata
;
Luisa Azevedo
;
PUBLISHED:
2019
,
SOURCE:
HUMAN GENOMICS,
VOLUME:
13,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
:
38
IN MY:
ORCID
26
TITLE:
Evaluation of InnoQuant (R) HY and InnoTyper (R) 21 kits in the DNA analysis of rootless hair samples
AUTHORS:
Catia Martins
;
Paulo Miguel Ferreira
;
Raquel Carvalho
;
Sandra Cristina Costa
;
Carlos Farinha
;
Luisa Azevedo
;
Amorim, Antonio
;
Manuela Oliveira
;
PUBLISHED:
2019
,
SOURCE:
FORENSIC SCIENCE INTERNATIONAL-GENETICS,
VOLUME:
39
INDEXED IN:
Scopus
WOS
CrossRef
:
9
IN MY:
ORCID
27
TITLE:
GIT and Augmented Reality as tools for promotion and development of spatial thinking
AUTHORS:
Azevedo, L
;
Osorio, A
;
Ribeiro, V
;
PUBLISHED:
2019
,
SOURCE:
14th Iberian Conference on Information Systems and Technologies (CISTI)
in
2019 14TH IBERIAN CONFERENCE ON INFORMATION SYSTEMS AND TECHNOLOGIES (CISTI),
VOLUME:
2019-June
INDEXED IN:
Scopus
WOS
CrossRef
:
1
28
TITLE:
RFT1-CDG: Absence of epilepsy and deafness in two patients with novel pathogenic variants
AUTHORS:
Quelhas, D
; Jaeken, J; Fortuna, A;
Azevedo, L
; Bandeira, A; Matthijs, G;
Martins, E
;
PUBLISHED:
2019
,
SOURCE:
JIMD Reports,
VOLUME:
43
INDEXED IN:
Scopus
CrossRef
:
2
IN MY:
ORCID
29
TITLE:
Internal validation of two new retrotransposons-based kits (InnoQuant (R) HY and InnoTyper (R) 21) at a forensic lab
Full Text
AUTHORS:
Catia Martins
; Paulo Miguel Ferreira;
Raquel Carvalho
;
Sandra Cristina Costa
;
Carlos Farinha
;
Luisa Azevedo
;
Amorim, Antonio
;
Manuela Oliveira
;
PUBLISHED:
2018
,
SOURCE:
FORENSIC SCIENCE INTERNATIONAL,
VOLUME:
283
INDEXED IN:
Scopus
WOS
CrossRef
:
6
IN MY:
ORCID
30
TITLE:
The Yeast Saccharomyces cerevisiae as a Model for Understanding RAS Proteins and Their Role in Human Tumorigenesis
AUTHORS:
Cazzanelli, G; Pereira, F; Alves, S; Francisco, R;
Azevedo, L
; Carvalho, PD; Almeida, A;
Corte Real, M
;
Oliveira, MJ
;
Lucas, C
;
Sousa, MJ
;
Preto, A
;
PUBLISHED:
2018
,
SOURCE:
CELLS,
VOLUME:
7,
ISSUE:
2
INDEXED IN:
WOS
CrossRef
:
31
Handle
IN MY:
ORCID
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