Jose A. Catanese-Nastasi
Cali, VAC, Colombia
Last Updated: 09/26/2026
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Found 11 publications
New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister-Hall Syndrome: A Clinical Report.
Journal: Molecular genetics & genomic medicine
Published: March 13, 2025
Case report: A novel COL3A1 variant in a Colombian patient with isolated cerebrovascular involvement in vascular Ehlers-Danlos syndrome.
Journal: Frontiers in medicine
Published: September 29, 2023
Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy.
Journal: Cold Spring Harbor molecular case studies
Published: April 27, 2023
The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas.
Journal: The application of clinical genetics
Published: April 12, 2022
Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: October 26, 2020
Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: October 25, 2020
New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report.
Journal: Clinical medicine insights. Pediatrics
Published: July 06, 2020
A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis.
Journal: The application of clinical genetics
Published: December 20, 2019
PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country.
Journal: The application of clinical genetics
Published: September 25, 2019
Severe Craniofacial Involvement due to Amniotic Band Sequence.
Journal: Fetal and pediatric pathology
Published: January 17, 2018
Showing 1-11 of 11
Last Updated: 09/26/2026