Elena García-Arumí

6PUBLICATIONS
53CO-AUTHORS
Medical biochemistry - proteins and peptides (incl. medical proteomics)Foetal development and medicineEpigenetics (incl. genome methylation and epigenomics)Cancer geneticsGene mapping
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Publications (6)

|Mar 13, 2026
Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease.

Laura Bermejo-Guerrero, Juan Luis Restrepo-Vera, Paloma Martin-Jimenez

|Mar 10, 2025
Case Report: Androgenetic/biparental chimera with two biparental cell lines leading to placental mesenchymal dysplasia: a possible novel mechanism of formation.

Mar Xunclà, María Ángeles Sánchez-Durán, Natàlia Rey

|Jul 23, 2024
A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1α interaction.

Lorraine Glennie, Marta Codina Solà, Mar Xunclà

|May 22, 2023
Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.

María Clemente, Patricia Cobo, María Antolín

|Jan 05, 2023
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples.

Anna Abulí, Mar Costa-Roger, Marta Codina-Solà

|Jul 02, 2021
Therapy Prospects for Mitochondrial DNA Maintenance Disorders.

Javier Ramón, Ferran Vila-Julià, David Molina-Granada

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Frequent Collaborators

2 joint publications

Ramon Martí

2 joint publications

Marta Codina-Solà

2 joint publications

Mar Xunclà

1 joint publications

Javier Ramón