Halil G. Karabulut

Ankara, Turkey

Last Updated: 09/26/2026

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Found 26 publications

A Case of Paroxysmal Exercise-Induced Dyskinesia Expands the Phenotypic spectrum of NAXE-Related Encephalopathy.

A Case of Paroxysmal Exercise-Induced Dyskinesia Expands the Phenotypic spectrum of NAXE-Related Encephalopathy.

Journal: Journal of child neurology

Published: July 24, 2026

Mutation analysis of the FOXL2 and BMP15 genes in patients with premature ovarian insufficiency.

Mutation analysis of the FOXL2 and BMP15 genes in patients with premature ovarian insufficiency.

Journal: Turkish journal of obstetrics and gynecology

Published: May 11, 2026

Diagnostic Yield and Clinical Utility of Genetic Testing in Turkish Adults with Suspected Inherited Kidney Disease: Insights from a Population with High Parental Consanguinity.

Diagnostic Yield and Clinical Utility of Genetic Testing in Turkish Adults with Suspected Inherited Kidney Disease: Insights from a Population with High Parental Consanguinity.

Journal: Journal of clinical practice and research

Published: January 21, 2026

Further delineation of KIDAR syndrome: Two new cases with novel variants, functional analysis of the variants and a comprehensive review.

Further delineation of KIDAR syndrome: Two new cases with novel variants, functional analysis of the variants and a comprehensive review.

Journal: Journal of human genetics

Published: September 29, 2025

Satisfactory clinical response to erlotinib in a patient with Olmsted syndrome.

Satisfactory clinical response to erlotinib in a patient with Olmsted syndrome.

Journal: Clinical and experimental dermatology

Published: May 28, 2024

De novo germline TP53 mutation in a pediatric patient with Li-Fraumeni syndrome and diffuse peritoneal mesothelioma.

De novo germline TP53 mutation in a pediatric patient with Li-Fraumeni syndrome and diffuse peritoneal mesothelioma.

Journal: Pediatric blood & cancer

Published: April 03, 2024

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

Genetic Analysis of RASD1 as a Candidate Gene for Schizophrenia

Genetic Analysis of RASD1 as a Candidate Gene for Schizophrenia

Journal: Balkan medical journal

Published: October 28, 2022

Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).

Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).

Journal: American journal of medical genetics. Part A

Published: September 17, 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

Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family.

Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: June 22, 2020

Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency.

Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency.

Journal: Fetal and pediatric pathology

Published: January 31, 2020

Showing 1-12 of 26

Last Updated: 09/26/2026