Luísa Cristina da Costa Azevedo


AuthID: R-000-9VD

Confirmed Publications: 70



11
TITLE: Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity  Full Text
AUTHORS: Lopes Marques, M; Pacheco, AR; Peixoto, MJ; Cardoso, AR; Serrano, C; Amorim, Antonio ; Prata, MJ ; Cooper, DN; Azevedo, L ;
PUBLISHED: 2021, SOURCE: HUMAN MUTATION, VOLUME: 42, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 4
IN MY: ORCID
12
TITLE: Compensatory epistasis explored by molecular dynamics simulations  Full Text
AUTHORS: Serrano, C; Teixeira, CSS; Cooper, DN; Carneiro, J; Lopes Marques, M; Stenson, PD; Amorim, Antonio ; Prata, MJ ; Sérgio F. Sousa ; Azevedo, L ;
PUBLISHED: 2021, SOURCE: HUMAN GENETICS, VOLUME: 140, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 6
IN MY: ORCID
13
TITLE: Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience  Full Text
AUTHORS: Quelhas, D ; Martins, E ; Azevedo, L ; Bandeira, A; Diogo, L; Garcia, P; Sequeira, S; Ferreira, AC; Teles, EL; Rodrigues, E; Fortuna, AM; Mendonca, C; Fernandes, HC; Medeira, A; Gaspar, A; Janeiro, P; Oliveira, A; Laranjeira, F ; Ribeiro, I; Souche, E; Race, V; Keldermans, L; Matthijs, G; Jaeken, J; ...More
PUBLISHED: 2021, SOURCE: JOURNAL OF PEDIATRICS, VOLUME: 231
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
14
15
TITLE: Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses
AUTHORS: Ferreira, F; Azevedo, L ; Neiva, R; Sousa, C; Fonseca, H; Marcao, A; Rocha, H; Carmona, C; Ramos, S; Bandeira, A; Martins, E ; Campos, T; Rodrigues, E; Garcia, P; Diogo, L; Ferreira, AC; Sequeira, S; Silva, F; Rodrigues, L; Gaspar, A; Janeiro, P; Amorim, Antonio ; Vilarinho, L; ...More
PUBLISHED: 2021, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 9, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 4
IN MY: ORCID
16
17
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
18
19
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
20
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
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