Burhan Balta

Kayseri, Turkey

Last Updated: 09/26/2026

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Found 25 publications

A novel homozygous c.301T > C, p.Y101H variant in the GNA11 gene is implicated in familial hypocalciuric hypercalcemia type 2 in a proband with the heterozygous variant present in mother and father - A case report.

A novel homozygous c.301T > C, p.Y101H variant in the GNA11 gene is implicated in familial hypocalciuric hypercalcemia type 2 in a proband with the heterozygous variant present in mother and father - A case report.

Journal: Scandinavian journal of clinical and laboratory investigation

Published: November 15, 2025

Rare X;13 translocation with NR0B1 duplication in partial gonadal dysgenesis: A novel karyotype in DSD cases.

Rare X;13 translocation with NR0B1 duplication in partial gonadal dysgenesis: A novel karyotype in DSD cases.

Journal: Molecular biology reports

Published: August 06, 2025

A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.

A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.

Journal: Neurogenetics

Published: March 07, 2025

A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature.

A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature.

Journal: American journal of medical genetics. Part A

Published: August 27, 2024

Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.

Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.

Journal: American journal of medical genetics. Part A

Published: November 14, 2023

A Novel Variant in AKAP9 Gene, a Controversial Gene, in Long QT Syndrome.

A Novel Variant in AKAP9 Gene, a Controversial Gene, in Long QT Syndrome.

Journal: Molecular syndromology

Published: August 05, 2023

Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.

Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.

Journal: Journal of medical virology

Published: December 09, 2022

Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.

Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.

Journal: Journal of human genetics

Published: October 10, 2022

Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS-CoV-2 from 946 whole-exome sequencing data in the Turkish population.

Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS-CoV-2 from 946 whole-exome sequencing data in the Turkish population.

Journal: Journal of medical virology

Published: May 01, 2022

The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

Journal: Balkan medical journal

Published: December 03, 2021

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

A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever.

A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever.

Journal: Molecular biology reports

Published: July 19, 2019

Showing 1-12 of 25

Last Updated: 09/26/2026