Gizem Ürel-Demir

13PUBLICATIONS
53CO-AUTHORS
Adolescent healthMajor global burdens of diseaseGene and molecular therapyEpigenetics (incl. genome methylation and epigenomics)Cardiology (incl. cardiovascular diseases)
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Publications (13)

|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

|Jul 08, 2025
Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.

Akçahan Akalın, Hatice Dilara Karakaş, Canan Çelebi

|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

9 joint publications

Pelin Ozlem Simsek-Kiper

6 joint publications

Gülen Eda Utine

3 joint publications

Enise Avcı-Durmuşalioğlu

3 joint publications

Akçahan Akalın