Pelin S. Kiper

Ankara, Turkey

Last Updated: 09/26/2026

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Found 19 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

Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.

Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.

Journal: American journal of medical genetics. Part A

Published: April 18, 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

Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort.

Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort.

Journal: Journal of clinical immunology

Published: March 03, 2024

Assessing the Menstrual Cycle and Related Problems in Adolescents with a Genetic Syndrome Associated with Intellectual Disability.

Assessing the Menstrual Cycle and Related Problems in Adolescents with a Genetic Syndrome Associated with Intellectual Disability.

Journal: Journal of pediatric and adolescent gynecology

Published: October 01, 2022

Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report.

Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report.

Journal: Journal of medical case reports

Published: April 24, 2022

Recurrent fractures and an unusual diagnosis: Pycnodysostosis.

Recurrent fractures and an unusual diagnosis: Pycnodysostosis.

Journal: Journal of the National Medical Association

Published: December 09, 2021

Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.

Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: August 19, 2021

Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings.

Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings.

Journal: American journal of medical genetics. Part A

Published: April 28, 2021

Genetic IGF1R defects: new cases expand the spectrum of clinical features.

Genetic IGF1R defects: new cases expand the spectrum of clinical features.

Journal: Journal of endocrinological investigation

Published: January 31, 2020

A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet's Disease.

A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet's Disease.

Journal: Journal of clinical immunology

Published: April 28, 2018

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.

Journal: The New England journal of medicine

Published: June 30, 2016

Showing 1-12 of 19

Last Updated: 09/26/2026