Aysel Ünal

11PUBLICATIONS
67CO-AUTHORS
Genetic immunologyGene mappingNeonatologyEpigenetics (incl. genome methylation and epigenomics)Cancer genetics
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Publications (11)

|Sep 29, 2026
Clinical and Molecular Spectrum of KBG Syndrome in the Largest Independent Turkish Cohort: Novel ANKRD11 Variants, 16q24.3 Deletions, and Structural Insights for Robust ANKRD11 Variant Interpretation.

|Jun 03, 2026
Two Turkish families with type 1 Stickler syndrome carrying novel COL2A1 truncating variants: a case series.

|Feb 24, 2026
ATP6V0A2-Related Cutis Laxa: Identification of a Recurrent Exon 16 Deletion With Founder Effect in Southeastern Türkiye and a Novel Frameshift Variant.

Zeynep Esener, Murat Öztürk, Esra Habiloğlu

|Nov 19, 2025
Neutropenia is a consistent and the earliest manifestation of Cohen's syndrome: three cases and two novel variants in VPS13B gene.

Aysel Tekmenuray-Unal, Ayse Oz, Sultan Aydın

|Jul 23, 2025
Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.

Zeynep Esener, Mehmet Akif Yücesoy, Alper Gezdirici

|May 06, 2025
Primary adrenal insufficiency caused by pseudo-neonatal adrenoleukodystrophy associated with biallelic ACOX1 mutations.

Didem Helvacioglu, Aylin Tugba Canbaz, Aysel Tekmenuray-Unal

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Frequent Collaborators

3 joint publications

Sultan Aydın

2 joint publications

Murat Ozturk

2 joint publications

Edip Unal

2 joint publications

Tulay Guran