All Stories

  1. BRCA1/2 normal meme kanserli kadınlarda genotip-fenotip ilişkisinin araştırılması: Türkiye'den tek merkez deneyimi

    Article • Turkish Journal of Clinics and Laboratory, September 2021, Turkish Journal of Clinics and Laboratory

    Neslihan Duzkale

  2. Significant neuropsychiatric symptoms: three mucopolysaccharidosis type IIIB cases, two of whom were siblings with a novel NAGLU gene mutation

    Article • Neurocase, August 2021, Taylor & Francis

    Neslihan Duzkale

  3. Investigation of genotype–phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing

    Article • Ophthalmic Genetics, July 2021, Taylor & Francis

    Neslihan Duzkale

  4. The Relationship of Mutation Carriage of BRCA1/2 and Family History in Triple-Negative Breast Cancer: Experience from a Diagnostic Center in Turkey

    Article • European Journal of Breast Health, April 2021, Journal of Clinical Research of Pediatric Endocrinology

    Neslihan Duzkale

  5. Philadelphia kromozomu olan akut lenfoblastik lösemi hastalarında p210 kırılma noktası P190 kırılma noktasına göre daha az minimal kalıntı hastalığı ile ilişkilidir

    Article • Journal of Health Sciences and Medicine, June 2020, Journal of Health Sciences and Medicine

    Neslihan Duzkale

  6. Novel BRCA2 pathogenic genotype and breast cancer phenotype discordance in monozygotic triplets

    Article • European Journal of Medical Genetics, April 2020, Elsevier

    Neslihan Duzkale

  7. Evaluation of FMR1 gene mutations in Turkish women newly diagnosed with primary ovarian failure

    Article • International Journal of Reproduction Contraception Obstetrics and Gynecology, January 2019, Medip Academy

    Neslihan Duzkale

  8. Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: Four additional cases support a role of genetic modifiers in the manifestation of the phenotype

    Article • American Journal of Medical Genetics Part A, April 2015, Wiley

    Neslihan Duzkale