Ayberk K. Turkyilmaz

Trabzon, Turkey

Last Updated: 09/26/2026

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Found 104 publications

Case Report: Papillon-Lefèvre syndrome beyond keratoderma: two index presentations and sibling screening in two families.

Case Report: Papillon-Lefèvre syndrome beyond keratoderma: two index presentations and sibling screening in two families.

Journal: Frontiers in immunology

Published: May 22, 2026

A case of Joubert Syndrome and NPC1 mutation in a 7-year-old girl: presented with neuromotor developmental delay and ataxia.

A case of Joubert Syndrome and NPC1 mutation in a 7-year-old girl: presented with neuromotor developmental delay and ataxia.

Journal: Neurocase

Published: April 14, 2026

Phenotypic heterogeneity in carriers of a pathogenic MSH2 variant: implications for the diagnosis of Lynch syndrome.

Phenotypic heterogeneity in carriers of a pathogenic MSH2 variant: implications for the diagnosis of Lynch syndrome.

Journal: Journal of cancer research and clinical oncology

Published: April 13, 2026

Clinical, electrophysiological, and neuroimaging characterization of childhood-onset non-5q spinal muscular atrophies: a retrospective pediatric case series.

Clinical, electrophysiological, and neuroimaging characterization of childhood-onset non-5q spinal muscular atrophies: a retrospective pediatric case series.

Journal: Neurogenetics

Published: January 16, 2026

Long-term clinical outcomes of primary adrenal insufficiency caused by homozygous CYP11A1 p.R451W variant.

Long-term clinical outcomes of primary adrenal insufficiency caused by homozygous CYP11A1 p.R451W variant.

Journal: European journal of endocrinology

Published: January 12, 2026

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

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

Novel pathological genetic variant associated with DOCK8 deficiency: case report with successful hematopoietic stem cell transplantation.

Novel pathological genetic variant associated with DOCK8 deficiency: case report with successful hematopoietic stem cell transplantation.

Journal: Allergologia et immunopathologia

Published: October 09, 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

Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants.

Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants.

Journal: European journal of medical genetics

Published: August 02, 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

Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.

Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.

Journal: European journal of pediatrics

Published: July 03, 2025

Showing 1-12 of 104

Last Updated: 09/26/2026