Maria Arnedo
Zaragoza, AR 50009, Spain
Last Updated: 09/26/2026
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Found 21 publications
Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers' and Fathers' Perspectives.
Journal: Behavioral sciences (Basel, Switzerland)
Published: December 22, 2025
Ligand-Enzyme Interaction Modeling of Missense Variants Implicated in Mitochondrial HMG-CoA Synthase Deficiency.
Journal: International journal of molecular sciences
Published: July 15, 2025
AI-Based Facial Phenotyping Supports a Shared Molecular Axis in PACS1-, PACS2-, and WDR37-Related Syndromes.
Journal: International journal of molecular sciences
Published: June 17, 2025
Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome.
Journal: Scientific reports
Published: April 02, 2025
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.
Journal: Frontiers in genetics
Published: July 29, 2024
Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder.
Journal: Journal of clinical medicine
Published: March 14, 2023
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome
Journal: Journal of clinical research in pediatric endocrinology
Published: December 09, 2022
Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.
Journal: International journal of molecular sciences
Published: July 28, 2022
A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.
Journal: Genes
Published: July 18, 2022
Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome.
Journal: Frontiers in genetics
Published: July 13, 2022
Last Updated: 09/26/2026