Berk Ozyilmaz

Izmir, Turkey

Last Updated: 09/26/2026

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Found 51 publications

Characterization of the molecular and clinical features of Multilocus Inherited Neoplasia Allelic Syndrome (MINAS) cases in the Turkish population.

Characterization of the molecular and clinical features of Multilocus Inherited Neoplasia Allelic Syndrome (MINAS) cases in the Turkish population.

Journal: Familial cancer

Published: March 11, 2026

Genetic and Clinical Determinants of Chronic Thromboembolic Pulmonary Hypertension: The Role of PAI-1 Polymorphism.

Genetic and Clinical Determinants of Chronic Thromboembolic Pulmonary Hypertension: The Role of PAI-1 Polymorphism.

Journal: International journal of molecular sciences

Published: November 15, 2025

Neonatal-onset genetic epilepsies: Insights from a large multicentre cohort.

Neonatal-onset genetic epilepsies: Insights from a large multicentre cohort.

Journal: Seizure

Published: October 28, 2025

A Comprehensive Perspective on Febrile Seizures in Children: A Prospective Cohort Study with Evaluation of Clinical, Laboratory, and Genetic Features.

A Comprehensive Perspective on Febrile Seizures in Children: A Prospective Cohort Study with Evaluation of Clinical, Laboratory, and Genetic Features.

Journal: Journal of clinical medicine

Published: August 28, 2025

Beyond the Copy Number Differences: The Phenotypic Diversity of Children With 15q11.2 Microdeletions and Microduplications.

Beyond the Copy Number Differences: The Phenotypic Diversity of Children With 15q11.2 Microdeletions and Microduplications.

Journal: Journal of child neurology

Published: August 26, 2025

Prenatal Findings and Perinatal Outcomes of Rare Autosomal Trisomies: A Retrospective Cohort Study.

Prenatal Findings and Perinatal Outcomes of Rare Autosomal Trisomies: A Retrospective Cohort Study.

Journal: Fetal and pediatric pathology

Published: June 20, 2025

Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single-Center Experience.

Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single-Center Experience.

Journal: Annals of human genetics

Published: May 27, 2025

Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients.

Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients.

Journal: Neuromuscular disorders : NMD

Published: March 02, 2025

The Prevalence of Migraine in Children Diagnosed with Familial Mediterranean Fever.

The Prevalence of Migraine in Children Diagnosed with Familial Mediterranean Fever.

Journal: Neuropediatrics

Published: January 14, 2025

Clinical and Genetic Spectrum of RYR1-Related Disease.

Clinical and Genetic Spectrum of RYR1-Related Disease.

Journal: Molecular syndromology

Published: January 10, 2025

Demographic, clinical, and genetic characteristics of patients with Limb-Girdle Muscular Dystrophies (LGMD): A single tertiary-center experience.

Demographic, clinical, and genetic characteristics of patients with Limb-Girdle Muscular Dystrophies (LGMD): A single tertiary-center experience.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: January 04, 2025

Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants.

Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants.

Journal: Annals of Indian Academy of Neurology

Published: December 14, 2024

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Last Updated: 09/26/2026