Ayca Kocaaga - Publications

Multigene panel testing reveals the spectrum of non-BRCA germline variants in BRCA1/2-negative breast, ovarian, and prostate cancer patients from a Turkish cohort.

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

Published: August 13, 2025

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review.

Journal: Frontiers in neurology

Published: May 05, 2025

Hypomagnesemia as a primary clue for the diagnosis of 17q12 deletion syndrome associated with spinal syringomyelia: a case report.

Journal: The Turkish journal of pediatrics

Published: May 01, 2025

A review of the immunogenetics of Stevens-Johnson syndrome and toxic epidermal necrolysis.

Journal: Global medical genetics

Published: April 03, 2025

Chromosomal abnormalities of embryos from sporadic and recurrent miscarriages: a tertiary center experience.

Journal: Molecular biology reports

Published: March 14, 2025

Investigation of the relationship between venous thromboembolism and thrombophilic variants.

Journal: Revista da Associacao Medica Brasileira (1992)

Published: August 09, 2024

Case report: Pai syndrome with multiple ventricular septal defect and without cleft palate.

Journal: Clinical neurology and neurosurgery

Published: August 21, 2023

The genetic spectrum of polycystic kidney disease in children.

Journal: Revista da Associacao Medica Brasileira (1992)

Published: August 01, 2023

Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants.

Journal: Pediatric neurology

Published: May 17, 2023

Association of NOD1 and NOD2 Polymorphisms With Susceptibility to Subacute Sclerosing Panencephalitis.

Journal: Journal of child neurology

Published: December 22, 2022

Identification of novel variants in retinitis pigmentosa genes by whole-exome sequencing.

Journal: Revista da Associacao Medica Brasileira (1992)

Published: December 16, 2022

The pattern of chromosomal abnormalities in recurrent miscarriages: a single center retrospective study.

Journal: Annals of Saudi medicine

Published: November 29, 2022