Ayberk Türkyılmaz

23PUBLICATIONS
81CO-AUTHORS
NeonatologyGene mappingAutonomic nervous systemInfant and child healthEpigenetics (incl. genome methylation and epigenomics)
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Publications (23)

|Apr 14, 2026
A case of Joubert Syndrome and NPC1 mutation in a 7-year-old girl: presented with neuromotor developmental delay and ataxia.

B Diler Durgut, A Türkyılmaz

|Dec 01, 2025
Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

Zehra Manav Yiğit, Aydan Mengübaş Erbaş, Ayberk Türkyılmaz

|Nov 23, 2025
The first report of a gross deletion in the SCNN1G gene in a case presenting with hyponatremic convulsion at fifth year of treatment.

Leyla Gizem Bolaç Özyılmaz, Ayberk Türkyılmaz, Özge Pelin Akbay

|Oct 11, 2025
Genetic heterogeneity in pediatric short stature: insights from whole exome sequencing and snp- array analyses in a Turkish cohort.

Kubra Adanur Saglam, Semiha Bekfilavioglu, Aysel Yıldız Boyraz

|Oct 08, 2025
Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.

Ayşe Burcu Doğan Arı, Ayberk Türkyılmaz, Abdulkerim Kolkıran

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

Zeynep Esener, Mehmet Akif Yücesoy, Alper Gezdirici

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Frequent Collaborators

3 joint publications

Ayşe Burcu Doğan Arı

3 joint publications

Gulay Karaguzel

3 joint publications

Alperhan Çebi

3 joint publications

Şenay Savaş Erdeve