Ayşe Burcu Doğan Arı

6PUBLICATIONS
15CO-AUTHORS
Medical genetics (excl. cancer genetics)Cancer geneticsEpigenetics (incl. genome methylation and epigenomics)Developmental genetics (incl. sex determination)Nanomedicine
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Publications (6)

|Sep 01, 2026
Expanding the Clinical and Genetic Spectrum of Schmid Metaphyseal Chondrodysplasia: A Seven-Patient Series Including a Rare Homozygous COL10A1 Case.

|Jul 16, 2026
PTCH1-Related Gorlin Syndrome: Expanding the Clinical and Molecular Spectrum in a Cohort of 11 Patients.

|Jun 02, 2026
Clinical and genetic spectrum of SHOX deficiency: phenotypic heterogeneity and the "Jumping SHOX" phenomenon.

|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 18, 2025
Two New Families With TAF13 Variant Presenting With Syndromic 46,XY Disorder of Sex Development: Expanding the Clinical Phenotype.

Hasan Arı, Ayberk Türkyılmaz, Ayşe Burcu Doğan Arı

|May 06, 2025
Four New Patients of HHAT -Related Multiple Congenital Anomalies Syndrome (Nivelon-Nivelon-Mabille Syndrome) and a Comprehensive Literature Review.

Ayşe Burcu Doğan Arı, Hasan Arı, Ayberk Türkyılmaz

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Frequent Collaborators

4 joint publications

Esra Kılıç

3 joint publications

Hasan Arı

3 joint publications

Ayberk Türkyılmaz

3 joint publications

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