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María Arnedo

7PUBLICATIONS
18CO-AUTHORS
Infant and child healthMetabolic medicineGene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesCancer genetics
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Journal

Publications (7)

Sort by Publication Date:
|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 <i>PACS1</i>-, <i>PACS2</i>-, and <i>WDR37</i>-Related Syndromes.

Julia Del Rincón, Marta Gil-Salvador, Cristina Lucia-Campos

|Jun 28, 2023
Heart Disease Characterization and Myocardial Strain Analysis in Patients with <i>PACS1</i> Neurodevelopmental Disorder.

Ana Latorre-Pellicer, Laura Trujillano, Julia Del Rincón

|Dec 09, 2022
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome

Ángela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac

|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

7 joint publications

Ana Latorre-Pellicer

7 joint publications

Juan Pié Juste

6 joint publications

Feliciano J Ramos

6 joint publications

Beatriz Puisac

5 joint publications

Marta Gil-Salvador

5 joint publications

Ariadna Ayerza-Casas

4 joint publications

Laura Trujillano

3 joint publications

Paulino Gómez-Puertas

3 joint publications

Julia Del Rincón

2 joint publications

Ángela Ascaso

Frequent Collaborators

7 joint publications

Ana Latorre-Pellicer

7 joint publications

Juan Pié Juste

6 joint publications

Feliciano J Ramos

6 joint publications

Beatriz Puisac

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