Dr. Öğr. Üyesi Pelin Ercoşkun

Genomik imprinting bozukluklarda klinik bulgular ve genetik tanı

Ege Tıp Dergisi, 2026

DOI 10.19161/etd.1637605 Source : OpenAlex

Beyond NLRP3: expanding the spectrum of NLR-associated autoinflammatory diseases

Rheumatology, 2026

DOI 10.1093/rheumatology/keag518 PMID 42755046 Texte intégral en libre accèsSource : OpenAlex

Identification of genetic variants associated with monogenic autoinflammatory diseases in patients with Still’s disease using next-generation sequencing

Immunologic Research, 2026

DOI 10.1007/s12026-026-09853-4 PMID 42821198 Source : OpenAlex

Clinical and Molecular Spectrum of 1q21.1 Copy Number Variations: A Case Series

Genes, 2026

DOI 10.3390/genes17101284 PMID 42938400 Texte intégral en libre accèsSource : OpenAlex

HMGA2 associated ceRNA-HOTAIR pathway in breast cancer patients from clinicopathological perspective

TURKISH JOURNAL OF MEDICAL SCIENCES, 2025

DOI 10.55730/1300-0144.6027 PMID 40686703 Texte intégral en libre accèsSource : OpenAlex

Delineating the Adult Phenotype of PGM2L1 ‐Related Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, 2025

DOI 10.1002/ajmg.a.64293 PMID 41178743 Source : OpenAlex

Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype–Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease

Clinical Genetics, 2024

DOI 10.1111/cge.14687 PMID 39731278 1 citation (Europe PMC) Source : OpenAlex

Whole Exome Sequencing in Neurodevelopmental Disorders: A Single Center Study

Basic and Clinical Neuroscience Journal, 2024

DOI 10.32598/bcn.2024.5231.1 Source : OpenAlex

The right to terminate pregnancy (abortion): reflections from Turkey

Journal of Law and the Biosciences, 2023

DOI 10.1093/jlb/lsad023 PMID 37671116 1 citation (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

A Novel nonsense variant in the CDH2 gene associated with ACOGS : A case report

American Journal of Medical Genetics Part A, 2022

DOI 10.1002/ajmg.a.62861 PMID 35708058 3 citations (Europe PMC) Source : OpenAlex

Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing

Molecular Syndromology, 2021

DOI 10.1159/000518927 PMID 35418818 8 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

A new case of Turnpenny‐Fry syndrome

American Journal of Medical Genetics Part A, 2021

DOI 10.1002/ajmg.a.62560 PMID 34750959 4 citations (Europe PMC) Source : OpenAlex

A novel genomic variant in two siblings with very low-density lipoprotein receptor-associated cerebellar hypoplasia

Clinical Dysmorphology, 2021

DOI 10.1097/mcd.0000000000000409 PMID 34954733 Source : OpenAlex

Novel Findings in Floating-Harbor Syndrome and a Mini-Review of the Literature

Molecular Syndromology, 2020

DOI 10.1159/000512050 PMID 33776628 7 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

Witteveen–Kolk syndrome: The first patient from Turkey

American Journal of Medical Genetics Part A, 2020

DOI 10.1002/ajmg.a.61950 PMID 33142042 5 citations (Europe PMC) Source : OpenAlex

Clinical results and importance of next-generation sequencing (NGS) in detecting targeted mutations in the treatment of metastatic Lung Cancer: Single center initial results

Medical Science and Discovery, 2019

DOI 10.36472/msd.v6i12.330 Texte intégral en libre accèsSource : OpenAlex

▪ Ercoskun P, et al. A new case of Turnpenny-Fry syndrome. Am J Med Genet A. 2022

Source : page de profil sur medipol.com.tr