Monica Lopes-Marques
Universidade do Porto
H-index: 17
Europe-Portugal
Top articles of Monica Lopes-Marques
Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease
Human Genomics
2024/2/23
Naturally occurring genetic diseases caused by de novo variants in domestic animals
2024/2/7
A partial duplication of an X-linked gene exclusive of a primate lineage (Macaca)
Gene
2023/1/30
Complex interactions between p. His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (NaV1. 5)
PeerJ
2022/8/17
Monica Lopes-Marques
H-Index: 12
Verónica Gomes
H-Index: 6
Ana Cardoso
H-Index: 14
Antonio Amorim
H-Index: 34
Luisa Azevedo
H-Index: 13
The repertoire of the elongation of very long-chain fatty acids (Elovl) protein family is conserved in tambaqui (Colossoma macropomum): Gene expression profiles offer insights …
Comparative Biochemistry and Physiology Part B: Biochemistry and Molecular Biology
2022/8/1
Dietary lipids as modulators of fatty acid profile and gene expression patterns on body compartments of Octopus vulgaris paralarvae
Aquaculture
2022/7/15
A robust assay to monitor ataxin-3 amyloid fibril assembly
Cells
2022/6/19
SLC35A2-CDG: Novel variant and review
Molecular Genetics and Metabolism Reports
2021/3/1
Assessing the effects of PMM2 variants on protein stability
Molecular Genetics and Metabolism
2021/12/1
An ancestral nuclear receptor couple, PPAR-RXR, is exploited by organotins
Science of The Total Environment
2021/11/25
Genetic variability of the functional domains of chromodomains helicase DNA-binding (CHD) proteins
2021/11/19
Compensatory epistasis explored by molecular dynamics simulations
Human Genetics
2021/9
Evolution and Functional Characteristics of the Novel elovl8 That Play Pivotal Roles in Fatty Acid Biosynthesis
Genes
2021/8/23
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity
Human Mutation
2021/8
Losing Genes: The Evolutionary Remodeling of Cetacea Skin
2020/10/28
The Echinodermata PPAR: Functional characterization and exploitation by the model lipid homeostasis regulator tributyltin
Environmental pollution
2020/8/1
GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss during mammalian evolution
Scientific Reports
2020/7/14
PseudoChecker: an integrated online platform for gene inactivation inference
Nucleic Acids Research
2020/7/2
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