Luísa Azevedo
Universidade do Porto
H-index: 21
Europe-Portugal
Top articles of Luísa Azevedo
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Naturally occurring genetic diseases caused by de novo variants in domestic animals | Luísa Azevedo Andreia P Amaro João Niza‐Ribeiro Mónica Lopes‐Marques | 2024/2/7 | |
Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease | Human Genomics | Mónica Lopes-Marques Matthew Mort João Carneiro António Azevedo Andreia P Amaro | 2024/2/23 |
Using plants in forensics: state-of-the-art and prospects | Manuela Oliveira Luísa Azevedo David Ballard Wojciech Branicki Antonio Amorim | 2023/9/6 | |
A partial duplication of an X-linked gene exclusive of a primate lineage (Macaca) | Gene | Catarina Serrano Monica Lopes-Marques Antonio Amorim Maria Joao Prata Luisa Azevedo | 2023/1/30 |
Genetic modifiers in glycosylation pathways: Is there a link between PMM2 and PGM1? | Dulce Quelhas Jaak Jaeken Luisa Azevedo | 2023/1 | |
Complex interactions between p. His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (NaV1. 5) | PeerJ | Monica Lopes-Marques Raquel Silva Catarina Serrano Verónica Gomes Ana Cardoso | 2022/8/17 |
Molecular Markers: An Overview of Data Published for Fungi over the Last Ten Years | Journal of Fungi | Manuela Oliveira Luísa Azevedo | 2022/7/29 |
Non-B DNA conformations analysis through molecular dynamics simulations | Biochimica et Biophysica Acta (BBA)-General Subjects | Andre F Pina Sergio F Sousa Luisa Azevedo Joao Carneiro | 2022/12/1 |
Compensatory epistasis explored by molecular dynamics simulations | Human Genetics | Catarina Serrano Carla SS Teixeira David N Cooper João Carneiro Mónica Lopes-Marques | 2021/9 |
Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience | The Journal of Pediatrics | Dulce Quelhas Esmeralda Martins Luísa Azevedo Anabela Bandeira Luísa Diogo | 2021/4/1 |
SLC35A2-CDG: Novel variant and review | Molecular Genetics and Metabolism Reports | Dulce Quelhas Joana Correia Jaak Jaeken Luísa Azevedo Mónica Lopes-Marques | 2021/3/1 |
Assessing the effects of PMM2 variants on protein stability | Molecular Genetics and Metabolism | D Quelhas J Carneiro M Lopes-Marques J Jaeken E Martins | 2021/12/1 |
Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses | Molecular Genetics & Genomic Medicine | Filipa Ferreira Luísa Azevedo Raquel Neiva Carmen Sousa Helena Fonseca | 2021/3 |
Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins | Ana R Cardoso Mónica Lopes-Marques Manuela Oliveira António Amorim Maria J Prata | 2021/11/19 | |
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity | Human Mutation | Mónica Lopes‐Marques Ana Rita Pacheco Maria João Peixoto Ana Rita Cardoso Catarina Serrano | 2021/8 |
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting | Peter D Stenson Matthew Mort Edward V Ball Molly Chapman Katy Evans | 2020/6/28 | |
GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss during mammalian evolution | Scientific Reports | Monica Lopes-Marques Catarina Serrano Ana R Cardoso Renato Salazar Susana Seixas | 2020/7/14 |
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