Monica S. Marques-Lopes

Matosinhos, 4450208, Portugal

Last Updated: 09/26/2026

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Found 41 publications

Gene Loss DB: a curated database for gene loss in mammals-the cetacean collection.

Gene Loss DB: a curated database for gene loss in mammals-the cetacean collection.

Journal: Database : the journal of biological databases and curation

Published: May 26, 2025

Polymorphic pseudogenes in the human genome - a comprehensive assessment.

Polymorphic pseudogenes in the human genome - a comprehensive assessment.

Journal: Human genetics

Published: August 05, 2024

Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.

Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.

Journal: Human genomics

Published: November 10, 2023

Naturally occurring genetic diseases caused by de novo variants in domestic animals.

Naturally occurring genetic diseases caused by de novo variants in domestic animals.

Journal: Animal genetics

Published: August 25, 2023

A partial duplication of an X-linked gene exclusive of a primate lineage (Macaca).

A partial duplication of an X-linked gene exclusive of a primate lineage (Macaca).

Journal: Gene

Published: July 19, 2022

A Robust Assay to Monitor Ataxin-3 Amyloid Fibril Assembly.

A Robust Assay to Monitor Ataxin-3 Amyloid Fibril Assembly.

Journal: Cells

Published: May 10, 2022

Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na V 1.5).

Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na V 1.5).

Journal: PeerJ

Published: February 24, 2022

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 into the sexual differentiation process.

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 into the sexual differentiation process.

Journal: Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology

Published: February 11, 2022

Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins.

Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins.

Journal: Genes

Published: September 24, 2021

Assessing the effects of PMM2 variants on protein stability.

Assessing the effects of PMM2 variants on protein stability.

Journal: Molecular genetics and metabolism

Published: September 07, 2021

Evolution and Functional Characteristics of the Novel elovl8 That Play Pivotal Roles in Fatty Acid Biosynthesis.

Evolution and Functional Characteristics of the Novel elovl8 That Play Pivotal Roles in Fatty Acid Biosynthesis.

Journal: Genes

Published: June 23, 2021

Compensatory epistasis explored by molecular dynamics simulations.

Compensatory epistasis explored by molecular dynamics simulations.

Journal: Human genetics

Published: April 16, 2021

Showing 1-12 of 41

Last Updated: 09/26/2026