Gizem U. Demir

Ankara, Turkey

Last Updated: 09/26/2026

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Found 11 publications

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

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

Journal: American journal of medical genetics. Part A

Published: August 02, 2025

Recognizing multiple epiphyseal dysplasia in children presenting with joint pain: a commonly overlooked skeletal dysplasia.

Recognizing multiple epiphyseal dysplasia in children presenting with joint pain: a commonly overlooked skeletal dysplasia.

Journal: European journal of pediatrics

Published: March 23, 2025

Desbuquois dysplasia and cardiovascular complications: a retrospective cohort study.

Desbuquois dysplasia and cardiovascular complications: a retrospective cohort study.

Journal: European journal of pediatrics

Published: March 03, 2025

Correction to: Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities.

Correction to: Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities.

Journal: European journal of pediatrics

Published: July 18, 2024

Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome.

Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome.

Journal: Molecular syndromology

Published: April 19, 2024

Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities.

Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities.

Journal: European journal of pediatrics

Published: April 05, 2024

Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report.

Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report.

Journal: The Turkish journal of pediatrics

Published: January 11, 2024

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients.

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients.

Journal: European journal of medical genetics

Published: December 15, 2022

A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome.

A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome.

Journal: Pediatric allergy, immunology, and pulmonology

Published: September 19, 2022

Peters Plus syndrome: a recognizable clinical entity.

Peters Plus syndrome: a recognizable clinical entity.

Journal: The Turkish journal of pediatrics

Published: April 08, 2020

Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.

Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.

Journal: European journal of medical genetics

Published: May 22, 2018

Showing 1-11 of 11

Last Updated: 09/26/2026