Mustafa Yilmaz

Trabzon, Turkey

Last Updated: 09/26/2026

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Found 11 publications

Novel KIF11 Variants with New Clinical Features: Expanding the Clinical Phenotype.

Novel KIF11 Variants with New Clinical Features: Expanding the Clinical Phenotype.

Journal: Balkan journal of medical genetics : BJMG

Published: November 07, 2025

Two Unrelated Witteveen-Kolk Syndrome Patients Presenting with Unusual Clinical Features: Dual Diagnosis and Atypical Rare Manifestation.

Two Unrelated Witteveen-Kolk Syndrome Patients Presenting with Unusual Clinical Features: Dual Diagnosis and Atypical Rare Manifestation.

Journal: Molecular syndromology

Published: August 04, 2025

A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3.

A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3.

Journal: Clinical genetics

Published: September 06, 2024

Seroprevalence and Risk Factors of Hepatitis B, C and D in Adults in Trabzon, Türkiye

Seroprevalence and Risk Factors of Hepatitis B, C and D in Adults in Trabzon, Türkiye

Journal: Mikrobiyoloji bulteni

Published: July 24, 2024

Discovery of a Novel CUL3 Variant: Unveiling Epilepsy and Newly Associated Dysmorphic Traits in a Turkish Patient.

Discovery of a Novel CUL3 Variant: Unveiling Epilepsy and Newly Associated Dysmorphic Traits in a Turkish Patient.

Journal: Molecular syndromology

Published: May 29, 2024

Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome.

Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome.

Journal: Familial cancer

Published: March 23, 2024

Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals.

Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals.

Journal: American journal of medical genetics. Part A

Published: March 18, 2024

Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient.

Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient.

Journal: Molecular syndromology

Published: December 17, 2023

The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders.

The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders.

Journal: American journal of medical genetics. Part A

Published: September 24, 2023

Seroprevalence of Toxoplasmosis among 20 Years and Older Individuals in Trabzon, Turkey

Seroprevalence of Toxoplasmosis among 20 Years and Older Individuals in Trabzon, Turkey

Journal: Mikrobiyoloji bulteni

Published: April 22, 2021

Percentage of Memory B Lymphocytes and Regulatory T Lymphocytes in Peripheral Blood are Low but Not Predictive of Therapy outcomes in Newly Diagnosed Adult Patients with Primary Immune Thrombocytopenia.

Percentage of Memory B Lymphocytes and Regulatory T Lymphocytes in Peripheral Blood are Low but Not Predictive of Therapy outcomes in Newly Diagnosed Adult Patients with Primary Immune Thrombocytopenia.

Journal: Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion

Published: May 31, 2015

Showing 1-11 of 11

Last Updated: 09/26/2026