Gulsum Kayhan - Publications

Expanding the phenotypic and genotypic spectrum of TENM3-related syndromic microphthalmia.

Journal: Ophthalmic genetics

Published: June 18, 2026

Progression in familial exudative vitreoretinopathy: Long-term clinical course and baseline predictors.

Journal: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Published: April 04, 2026

Integrating Optical Genome Mapping into the Genetic Diagnostic Algorithm: Clinical Utility in Unresolved Autosomal Recessive Disorders from a Large Cohort.

Journal: Cytogenetic and genome research

Published: April 04, 2026

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

Journal: European journal of pediatrics

Published: February 26, 2026

Evaluation of ASCA IgA/IgG seropositivity, fecal calprotectin levels and NOD2 gene polymorphisms in patients with hidradenitis suppurativa: A prospective case-control study.

Journal: JAAD international

Published: February 03, 2026

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

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Published: January 30, 2026

Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye.

Journal: Genes

Published: January 23, 2026

Systematic Reanalysis of Whole-Exome Sequencing in Genetically Unsolved Pediatric Primary Ciliary Dyskinesia.

Journal: Pediatric pulmonology

Published: January 23, 2026

ROP mimicker in a big premature baby: Adams-Oliver syndrome with DOCK6 mutation: a case report and review of the literature.

Journal: Ophthalmic genetics

Published: December 29, 2025

Misdiagnosis in Referrals for Advanced Retinopathy of Prematurity.

Journal: Ophthalmology. Retina

Published: December 14, 2025

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.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: December 08, 2025

Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

Journal: Balkan medical journal

Published: December 01, 2025