Wissenschaftliche Arbeiten

Dr. Öğr. Üyesi Pelin Ercoşkun

17 Publikationen. Neben jeder Publikation steht die Quelle der Angabe.

Zurück zum Profil

  1. Genomik imprinting bozukluklarda klinik bulgular ve genetik tanı

    Ege Tıp Dergisi, 2026

    DOI 10.19161/etd.1637605 Quelle: OpenAlex

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

    Rheumatology, 2026

    DOI 10.1093/rheumatology/keag518 PMID 42755046 Frei zugänglicher VolltextQuelle: OpenAlex

  3. 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 Quelle: OpenAlex

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

    Genes, 2026

    DOI 10.3390/genes17101284 PMID 42938400 Frei zugänglicher VolltextQuelle: OpenAlex

  5. 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 Frei zugänglicher VolltextQuelle: OpenAlex

  6. 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 Quelle: OpenAlex

  7. 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 Zitation (Europe PMC) Quelle: OpenAlex

  8. Whole Exome Sequencing in Neurodevelopmental Disorders: A Single Center Study

    Basic and Clinical Neuroscience Journal, 2024

    DOI 10.32598/bcn.2024.5231.1 Quelle: OpenAlex

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

    Journal of Law and the Biosciences, 2023

    DOI 10.1093/jlb/lsad023 PMID 37671116 1 Zitation (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  10. 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 Zitationen (Europe PMC) Quelle: OpenAlex

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

    Molecular Syndromology, 2021

    DOI 10.1159/000518927 PMID 35418818 8 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  12. A new case of Turnpenny‐Fry syndrome

    American Journal of Medical Genetics Part A, 2021

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

  13. 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 Quelle: OpenAlex

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

    Molecular Syndromology, 2020

    DOI 10.1159/000512050 PMID 33776628 7 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  15. 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 Zitationen (Europe PMC) Quelle: OpenAlex

  16. 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 Frei zugänglicher VolltextQuelle: OpenAlex

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

    Quelle: Profilseite auf medipol.com.tr