Laura Gort

9PUBLICATIONS
60CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Medical bacteriologyGene mappingMolecular targetsNeurology and neuromuscular diseases
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Publications (9)

|Jul 28, 2026
Comparison of Whole Exome Sequencing Commercial Kits Performance Across Diverse Tissue Sources.

|Sep 30, 2025
Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

Elsa Lucas-Castro, Francisca Diaz-González, Silvia Modamio-Høybjor

|Sep 04, 2024
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.

Agustin Hidalgo-Gutierrez, Jonathan Shintaku, Javier Ramon

|Aug 12, 2023
Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.

Luisa Arrabal, Gerard Muñoz-Pujol, Inmaculada Medina Martínez

|Jun 24, 2022
Bioenergetic and Autophagic Characterization of Skin Fibroblasts from C9orf72 Patients.

Maria Isabel Alvarez-Mora, Gloria Garrabou, Tamara Barcos

|Apr 23, 2022
Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects.

Nuria Bujan, Constanza Morén, Francesc J García-García

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Frequent Collaborators

3 joint publications

Antonia Ribes

3 joint publications

Glòria Garrabou

2 joint publications

Eduardo Ruiz-Pesini

2 joint publications

Frederic Tort