Marta Gil-Salvador
6PUBLICATIONS
34CO-AUTHORS
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Publications (6)
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|Mar 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.Ilaria Parenti, Alina Hesters, Marta Gil-Salvador
|Feb 27, 2026
Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers' and Fathers' Perspectives.Julia Del Rincón, Laura Trujillano, Cristina Lucia-Campos
|Sep 13, 2025
Ligand-Enzyme Interaction Modeling of Missense Variants Implicated in Mitochondrial HMG-CoA Synthase Deficiency.María Arnedo, David Ros-Pardo, Beatriz Puisac
|Aug 28, 2025
AI-Based Facial Phenotyping Supports a Shared Molecular Axis in PACS1-, PACS2-, and WDR37-Related Syndromes.Julia Del Rincón, Marta Gil-Salvador, Cristina Lucia-Campos
|Jun 28, 2023
Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder.Ana Latorre-Pellicer, Laura Trujillano, Julia Del Rincón
|Sep 09, 2022
Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.María Arnedo, Ángela Ascaso, Ana Latorre-Pellicer
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Frequent Collaborators
6 joint publications
Beatriz Puisac
5 joint publications
María Arnedo
5 joint publications
Ana Latorre-Pellicer
5 joint publications
Feliciano J Ramos
5 joint publications
Juan Pié
4 joint publications
Ariadna Ayerza-Casas
3 joint publications
Julia Del Rincón
2 joint publications
Paulino Gómez-Puertas
2 joint publications
Laura Trujillano
1 joint publications
Ángela Ascaso
