Esra Ates-Arslan

Istanbul, Turkey

Last Updated: 09/26/2026

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Found 20 publications

Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

Journal: Balkan medical journal

Published: December 01, 2025

Comprehensive clinical and genetic characterization of Bardet-Biedl Syndrome: insights from the largest Turkish cohort.

Comprehensive clinical and genetic characterization of Bardet-Biedl Syndrome: insights from the largest Turkish cohort.

Journal: European journal of pediatrics

Published: July 29, 2025

Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.

Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.

Journal: European journal of human genetics : EJHG

Published: September 10, 2024

Identification of Novel Variants in the NHS in Four Turkish Patients With Nance-Horan Syndrome.

Identification of Novel Variants in the NHS in Four Turkish Patients With Nance-Horan Syndrome.

Journal: American journal of medical genetics. Part A

Published: May 08, 2024

Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.

Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.

Journal: European journal of human genetics : EJHG

Published: January 30, 2024

PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature.

PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature.

Journal: Ophthalmic genetics

Published: January 08, 2024

Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome.

Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome.

Journal: Clinical dysmorphology

Published: March 06, 2023

Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf-Yang syndrome.

Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf-Yang syndrome.

Journal: Clinical genetics

Published: July 17, 2022

Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients.

Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients.

Journal: Medeniyet medical journal

Published: June 23, 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

Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant.

Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant.

Journal: Clinical dysmorphology

Published: April 08, 2022

Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations.

Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations.

Journal: The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology

Published: March 03, 2022

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Last Updated: 09/26/2026