Mahmut C. Ergoren - Publications

Low Prevalence of the HBB c.20A > T (HbS) Allele in a Turkish Cypriot Cohort: A Molecular Screening Study.

Journal: Hemoglobin

Published: August 04, 2026

Expression Profiling and Transcriptional Coordination of Canonical Wnt Signaling Pathway Genes (FZD2, DVL2, and AXIN1) in Chronic Venous Insufficiency.

Journal: Biomedicines

Published: June 19, 2026

Compound Heterozygous SLC12A3 Variants in Gitelman Syndrome Presenting With Ventricular Fibrillation and Cardiac Arrest.

Journal: Pacing and clinical electrophysiology : PACE

Published: April 19, 2026

Long-read sequencing bridges germline and somatic variant detection: a multi-modal approach for hereditary cancer diagnostics.

Journal: Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico

Published: January 21, 2026

Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Northern-Cyprus population.

Journal: Ideggyogyaszati szemle

Published: October 01, 2025

Rare diseases in the Turkish-Cypriot community: a nationwide study.

Journal: Journal of community genetics

Published: July 23, 2025

Investigation of balanced chromosomal aberrations prevalence in healthy Turkish Cypriot couples.

Journal: Global medical genetics

Published: July 10, 2025

A frameshift mutation in the PRG4 gene causing camptodactyly-arthropathy-coxa vara-pericarditis syndrome: a case report.

Journal: Modern rheumatology case reports

Published: June 27, 2025

Generating a database by calculating the pathogenic variants and allele frequencies detected in hereditary cancers using genomic data: A nation study.

Journal: Global medical genetics

Published: November 20, 2024

Molecular insights into Wnt3a and Wnt5a gene expression in venous insufficiency.

Journal: Molecular biology reports

Published: September 11, 2024

Determination of the Frequency of HBB (c.20 A > T) Gene Mutation in the Nigerian and Zimbabwean Populations in Northern Cyprus.

Journal: Biochemical genetics

Published: September 10, 2024

A scarce case: Co-occurrence of neurofibromatosis type 1 and Klinefelter syndrome.

Journal: Global medical genetics

Published: July 29, 2024