Gabriela F. Koupermann-Jaramillo
Quito, P, Ecuador
Last Updated: 09/26/2026
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Found 13 publications
The Assessment of RAB32 p.Ser71Arg Variant Prevalence in Parkinson's Disease Across Selected African, European, and South American Cohorts.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: October 15, 2025
Case Report: CYLD cutaneous syndrome with malignant transformation to spiradenocarcinoma: cooperative effects of CYLD truncation and an MSH2 clamp-domain variant in an Ecuadorian patient.
Journal: Frontiers in medicine
Published: September 12, 2025
Case Report: Misdiagnosis of Maturity-Onset Diabetes of the Young as type 1, type 2 or gestational diabetes: insights from a Latin American tertiary center.
Journal: Frontiers in medicine
Published: April 17, 2025
Dyggve-Melchior-Clausen Syndrome in Ecuador: Expanding Knowledge on a Rare Genetic Disorder.
Journal: Genes
Published: March 24, 2025
Screening for PRKN and PINK1 mutations in Ecuadorian patients with early-onset Parkinson's Disease.
Journal: Neurologia i neurochirurgia polska
Published: December 18, 2024
Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador.
Journal: NPJ genomic medicine
Published: August 21, 2024
Genetic Variations of the DPYD Gene and Its Relationship with Ancestry Proportions in Different Ecuadorian Trihybrid Populations.
Journal: Journal of personalized medicine
Published: May 04, 2022
Actionable mutations in non-small cell lung cancer in patients at hospital de Especialidades Eugenio Espejo, Ecuador 2017-2020.
Journal: Drug metabolism and personalized therapy
Published: February 27, 2022
A Multi-Objective Approach for Anti-Osteosarcoma Cancer Agents Discovery through Drug Repurposing.
Journal: Pharmaceuticals (Basel, Switzerland)
Published: October 02, 2020
Genetic characterization of Parkinson's disease patients in Ecuador and Colombia.
Journal: Parkinsonism & related disorders
Published: January 31, 2020
Gene Prioritization through Consensus Strategy, Enrichment Methodologies Analysis, and Networking for Osteosarcoma Pathogenesis.
Journal: International journal of molecular sciences
Published: December 10, 2019
A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries.
Journal: European journal of cancer (Oxford, England : 1990)
Published: June 03, 2019
Last Updated: 09/26/2026