Gülen Eda Utine

19PUBLICATIONS
77CO-AUTHORS
Medical molecular engineering of nucleic acids and proteinsAdolescent healthMajor global burdens of diseaseGene and molecular therapyCardiology (incl. cardiovascular diseases)
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Publications (19)

|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.

|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

|Jun 03, 2025
Desbuquois dysplasia and cardiovascular complications: a retrospective cohort study.

Musa Öztürk, Merve Tanrısever Türk, Gizem Ürel Demir

|May 20, 2025
Recognizing multiple epiphyseal dysplasia in children presenting with joint pain: a commonly overlooked skeletal dysplasia.

Tuğba Daşar, Gözde İmren, Adalet Elçin Yıldız

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Frequent Collaborators

14 joint publications

Pelin Özlem Simsek-Kiper

7 joint publications

Gizem Ürel-Demir

4 joint publications

Ekim Z Taşkıran

3 joint publications

Adalet Elçin Yıldız