Biray Erturk
Istanbul, Turkey
Last Updated: 09/26/2026
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Found 20 publications
A novel mutation in glycogen storage disease type XI presenting with neonatal cholestasis and infection-triggered hepatic flares.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: November 17, 2025
Diagnosis of Paediatric Inborn Errors of Immunity in a MENA Cohort Referred for Recurrent Infections Using a Structured Clinical Algorithm: A Real-Life Cross-Sectional Study.
Journal: Journal of paediatrics and child health
Published: September 24, 2025
Combined Immunodeficiency Associated With MAP2K1 p.Tyr130His Variant in Cardiofaciocutaneous Syndrome: A Case Report With Literature-Based Phenotypic Comparison.
Journal: Scandinavian journal of immunology
Published: August 26, 2025
Prenatal diagnosis and management of desbuquois dysplasia type 1 due to CANT1 mutation: A case report.
Journal: Taiwanese journal of obstetrics & gynecology
Published: November 15, 2024
Genetic mutations and prognostic indicators in differentiated thyroid cancer: a molecular perspective.
Journal: Turkish journal of medical sciences
Published: October 24, 2024
Response to: POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotypes.
Journal: Clinical neurology and neurosurgery
Published: July 01, 2023
Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.
Journal: Neuropediatrics
Published: February 14, 2023
A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy.
Journal: Clinical neurology and neurosurgery
Published: September 27, 2022
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
Journal: Clinical neurology and neurosurgery
Published: August 14, 2022
SERPINB11 variant-related liver injury in STEC-HUS: case reports and literature review.
Journal: Pediatric nephrology (Berlin, Germany)
Published: March 15, 2022
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
Journal: Genome medicine
Published: August 31, 2021
Clinical and Pathological Characteristics of Patients with High-Risk Breast Cancer Based on BRCA Mutation Profiles: A Retrospective Study.
Journal: European journal of breast health
Published: December 10, 2020
Last Updated: 09/26/2026