Pelin Ozlem Simsek-Kiper

28PUBLICATIONS
93CO-AUTHORS
Developmental genetics (incl. sex determination)Medical molecular engineering of nucleic acids and proteinsAdolescent healthMajor global burdens of diseaseGene and molecular therapy
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Publications (28)

|Sep 23, 2026
Recognizing Stuve-Wiedemann syndrome in childhood: clinical insights from 11 patients with founder and novel LIFR variants.

|Aug 18, 2026
Distinct Clinical Presentations of Menke-Hennekam Syndrome: Insights From CREBBP and EP300 Variants.

|May 02, 2026
Fibrodysplasia ossificans progressiva in children: diagnostic pitfalls and ACVR1 genotype-phenotype spectrum.

|Feb 23, 2026
Hypertrophic cardiomyopathy as a novel phenotypic feature of NSUN3-related mitochondrial disease: a case report with review of the literature.

Ayşe Şenol Ersak, Tuğçe Çağıran, Ayşen Koçyiğit

|Jan 14, 2026
Two siblings with a homozygous EEF1B2 loss-of-function variant: expanding the phenotypic spectrum of EEF1B2-related neurodevelopmental disorder.

Serap Ketenci-İşlek, Gizem Ürel-Demir, Gülen Eda Utine

|Jan 09, 2026
Homozygous MGME1 Variant in Turkish Siblings: First Reported Case With Successful Heart Transplantation, Expanding the Clinical Spectrum of MGME1 -Related Mitochondrial Disease.

Nazli Busra Acikgoz, Gizem Urel Demir, Yilmaz Yildiz

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Frequent Collaborators

15 joint publications

Gülen Eda Utine

11 joint publications

Gizem Ürel-Demir

6 joint publications

Ekim Z Taşkıran

5 joint publications

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