Alperhan Çebi

6PUBLICATIONS
38CO-AUTHORS
Cancer geneticsGene mappingInfant and child healthEpigenetics (incl. genome methylation and epigenomics)Autoimmunity
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Publications (6)

|Jun 12, 2026
Phenotypic heterogeneity in carriers of a pathogenic MSH2 variant: implications for the diagnosis of Lynch syndrome.

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

Zehra Manav Yiğit, Aydan Mengübaş Erbaş, Ayberk Türkyılmaz

|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

|May 27, 2025
A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish population.

Pinar Ozkan Kart, Oguzhan Demir, Ayberk Turkyilmaz

|Jul 24, 2023
Primary Immunodeficiencies in Children Initially Admitted with Gastrointestinal/Liver Manifestations.

Murat Cakir, Nalan Yakici, Elif Sag

|May 28, 2021
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset

Gülay Karagüzel, Recep Polat, Mehtap H Abul

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Frequent Collaborators

3 joint publications

Ayberk Türkyılmaz

2 joint publications

Gülay Karagüzel

2 joint publications

Fazıl Orhan

1 joint publications

Recep Polat