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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
12
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
13
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
14
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
15
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
16
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
17
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
19
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
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