Gulsum Kayhan

15PUBLICATIONS
98CO-AUTHORS
Neurology and neuromuscular diseasesSocial epidemiologyAerospace materialsCardiovascular medicine and haematology not elsewhere classifiedDevelopmental genetics (incl. sex determination)
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Publications (15)

|Aug 07, 2026
Systematic Reanalysis of Whole-Exome Sequencing in Genetically Unsolved Pediatric Primary Ciliary Dyskinesia.

|Jun 04, 2026
Growth hormone therapy and near-final height in SHOX deficiency and turner syndrome: a real-world single-center retrospective cohort study.

|May 11, 2026
Xq27.3-q28 duplication involving the FMR1 gene presenting with familial X-linked hypogonadism, gynecomastia, short stature, intellectual disability, and obesity syndrome: a case report and review of the literature.

|Mar 07, 2026
Is a variant of uncertain significance always 'insignificant'? A systematic review on PRF1 A91V in Hemophagocytic Lymphohistocytosis and comparative analysis with Still's disease.

İbrahim Yahya Çakır, Abdulsamet Erden, Ertuğrul Çağrı Bölek

|Jan 30, 2026
A Rare Cause of Genetic Liver Disease in Children: Transaldolase Deficiency with a Novel Pathogenic Variant in Two Siblings.

Ozlem Sumer Cosar, Gulsum Kayhan, Gulen Akyol

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

Zehra Manav Yiğit, Aydan Mengübaş Erbaş, Ayberk Türkyılmaz

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Frequent Collaborators

3 joint publications

Mehmet Ali Ergün

2 joint publications

Deniz Karçaaltıncaba

2 joint publications

Mahmut Orhun Çamurdan

2 joint publications

Mehmet Ali Oktay