Pelin O. Kiper-Simsek

Ankara, Turkey

Last Updated: 09/26/2026

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Found 136 publications

Distinct Clinical Presentations of Menke-Hennekam Syndrome: Insights From CREBBP and EP300 Variants.

Distinct Clinical Presentations of Menke-Hennekam Syndrome: Insights From CREBBP and EP300 Variants.

Journal: Journal of child neurology

Published: August 18, 2026

Child Neurology: Arthrogryposis and Antenatal-Onset Hyperkinetic Movements in a Newborn.

Child Neurology: Arthrogryposis and Antenatal-Onset Hyperkinetic Movements in a Newborn.

Journal: Neurology

Published: July 24, 2026

A synonymous NPR2 variant causes acromesomelic dysplasia through aberrant pre-mRNA splicing.

A synonymous NPR2 variant causes acromesomelic dysplasia through aberrant pre-mRNA splicing.

Journal: Differentiation; research in biological diversity

Published: May 21, 2026

Comprehensive Evaluation of Clinical, Developmental, Genetic, and Reproductive Characteristics of 133 Patients with Klinefelter Syndrome.

Comprehensive Evaluation of Clinical, Developmental, Genetic, and Reproductive Characteristics of 133 Patients with Klinefelter Syndrome.

Journal: Molecular syndromology

Published: March 06, 2026

Fibrodysplasia ossificans progressiva in children: diagnostic pitfalls and ACVR1 genotype-phenotype spectrum.

Fibrodysplasia ossificans progressiva in children: diagnostic pitfalls and ACVR1 genotype-phenotype spectrum.

Journal: European journal of pediatrics

Published: January 19, 2026

Multinodular and Vacuolating Neuronal Tumor in a Pediatric Patient with Klinefelter Syndrome and 5q33.1 Deletion: A Rare Clinical and Genetic Case Study.

Multinodular and Vacuolating Neuronal Tumor in a Pediatric Patient with Klinefelter Syndrome and 5q33.1 Deletion: A Rare Clinical and Genetic Case Study.

Journal: Molecular syndromology

Published: November 13, 2025

Beyond the Spectrum: A Case Report of Phelan-McDermid Syndrome and the Atypical Teratoid/Rhabdoid Tumor Co-Occurrence.

Beyond the Spectrum: A Case Report of Phelan-McDermid Syndrome and the Atypical Teratoid/Rhabdoid Tumor Co-Occurrence.

Journal: Molecular syndromology

Published: October 26, 2025

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

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

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: October 08, 2025

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

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

Journal: Neurogenetics

Published: September 16, 2025

Genetic Skeletal Disorders with Defects in Glycosaminoglycan Biosynthesis.

Genetic Skeletal Disorders with Defects in Glycosaminoglycan Biosynthesis.

Journal: Molecular syndromology

Published: August 25, 2025

PIK3CA-Related Phenotypes due to Germline and Somatic Mosaic Variants: A two-Case Report.

PIK3CA-Related Phenotypes due to Germline and Somatic Mosaic Variants: A two-Case Report.

Journal: Molecular syndromology

Published: August 22, 2025

Glutathione synthetase deficiency: severe hemolysis and metabolic acidosis with symptoms in the intrauterine period.

Glutathione synthetase deficiency: severe hemolysis and metabolic acidosis with symptoms in the intrauterine period.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: August 13, 2025

Showing 1-12 of 136

Last Updated: 09/26/2026