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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
2
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: 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: 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
7
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
8
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
9
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
10
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
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