Feliciano J. Ramos
Zaragoza, AR 50009, Spain
Last Updated: 09/26/2026
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Found 55 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
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.
Journal: medRxiv : the preprint server for health sciences
Published: December 03, 2025
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.
Journal: Nature communications
Published: October 17, 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
Investigation of multilocus imprinting disturbance (MLID) in 101 Beckwith-Wiedemann spectrum patients.
Journal: Clinical epigenetics
Published: April 29, 2025
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.
Journal: Frontiers in genetics
Published: July 29, 2024
Identification of copy-number variants in patients with overgrowth disorders.
Journal: Clinical genetics
Published: June 17, 2024
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Journal: American journal of medical genetics. Part A
Published: March 23, 2023
Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder.
Journal: Journal of clinical medicine
Published: March 14, 2023
Last Updated: 09/26/2026