Burcu Turkgenc

Istanbul, Turkey

Last Updated: 09/26/2026

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Found 12 publications

Investigation of CLOCK rs1801260 Polymorphism of Circadian Genes in Schizophrenia Patients.

Investigation of CLOCK rs1801260 Polymorphism of Circadian Genes in Schizophrenia Patients.

Journal: The Eurasian journal of medicine

Published: June 09, 2026

The potential role of dynein heavy chain genes in the pathophysiology of undescended testis.

The potential role of dynein heavy chain genes in the pathophysiology of undescended testis.

Journal: Pediatric surgery international

Published: December 26, 2025

Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy.

Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy.

Journal: Journal of neurogenetics

Published: September 25, 2024

From Death to Life/Back to the Future: Detailed Premorbid Clinical and Family History Can Save Lives and Address the Final Diagnosis in Sudden Unexplained Deaths With Negative Autopsy.

From Death to Life/Back to the Future: Detailed Premorbid Clinical and Family History Can Save Lives and Address the Final Diagnosis in Sudden Unexplained Deaths With Negative Autopsy.

Journal: Applied immunohistochemistry & molecular morphology : AIMM

Published: November 08, 2022

MGMT in glial carcinogenesis. Roles from prevention to treatment.

MGMT in glial carcinogenesis. Roles from prevention to treatment.

Journal: European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP)

Published: June 07, 2022

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Journal: Functional & integrative genomics

Published: July 09, 2021

Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.

Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.

Journal: American journal of human genetics

Published: October 12, 2019

A novel homozygous nonsense mutation in CAST associated with PLACK syndrome.

A novel homozygous nonsense mutation in CAST associated with PLACK syndrome.

Journal: Cell and tissue research

Published: September 18, 2018

Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.

Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.

Journal: Connective tissue research

Published: May 08, 2018

STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.

STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.

Journal: Human mutation

Published: February 10, 2018

A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections.

A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections.

Journal: Frontiers in endocrinology

Published: January 25, 2017

"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".

"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".

Journal: BMC medical genetics

Published: July 14, 2016

Showing 1-12 of 12

Last Updated: 09/26/2026