All Stories

  1. Clinical and molecular spectrum of RASopathies in a pediatric cohort: A single-center retrospective study

    Article • Turkish Journal of Pediatric Disease, April 2026, Turkish Journal of Pediatric Disease

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  2. Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights

    Article • Brain and Development, February 2026, Elsevier

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  3. Evaluation of Full Blood Count–Derived Inflammatory Indices (SII, SIRI, PIV, NLR) in Behçet’s Disease Patients and Healthy Controls

    Article • OBM Genetics, November 2025, Open BioMedical Publishing Corporation

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  4. Diagnostic Utility of Chromosomal Microarray Analysis in a Turkish Pediatric Cohort: Insights from 1,022 Patients with Neurodevelopmental Disorders and Congenital Anomalies

    Article • Cytogenetic and Genome Research, November 2025, Karger Publishers

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  5. Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals

    Article • American Journal of Medical Genetics Part A, June 2025, Wiley

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  6. Plexiform neurofibroma infiltrating uterine cervix and parametrium, causing hydronephrosis: A case report and review of the literature

    Article • International Journal of Gynecology & Obstetrics, May 2025, Wiley

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  7. The frequency of JAK2 V617F mutation and its association with low EPO levels in polycythemia vera patients

    Article • Scandinavian Journal of Clinical and Laboratory Investigation, May 2025, Taylor & Francis

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  8. Kisspeptin levels in infertile and miscarried women: a cross-sectional study on the relationship with methylenetetrahydrofolate reductase gene polymorphisms and biochemical parameters

    Article • Revista da Associação Médica Brasileira, January 2025, FapUNIFESP (SciELO)

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  9. Revealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric MODY Cases in Türkiye: Single Center Experience

    Article • Pediatric Diabetes, January 2025, Wiley

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  10. SYSTEMIC IMMUNE INFLAMMATION INDEX AND PAN-IMMUNE INFLAMMATION VALUE IN PREDICTING HUMAN LEUKOCYTE ANTIGEN-B27 POSITIVITY: A STUDY ON ANKYLOSING SPONDYLITIS PATIENTS

    Article • Meandros Medical And Dental Journal, September 2024, Adnan Menderes Universitesi Ziraat Fakultesi Dergisi

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  11. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

    Article • Genetics in Medicine, September 2024, Elsevier

    ozlem sezer, Dr Philippe M Campeau, Dr Vykuntaraju K Gowda

  12. Hyperekplexia: A Single-Center Experience

    Article • Journal of Child Neurology, June 2024, SAGE Publications

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  13. Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study

    Article • The Cerebellum, April 2024, Springer Science + Business Media

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  14. Association of MIF-173G/C, IL-4 VNTR, and IL-1RA VNTR variants with FMF-related amyloidosis in a Turkish cohort

    Article • Journal of Investigative Medicine, November 2023, SAGE Publications

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  15. TUBB8 mutations as a cause of oocyte maturation abnormalities: presentation of oocyte and embryo profiles and novel mutations

    Article • Reproductive BioMedicine Online, November 2023, Elsevier

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  16. Evaluating interleukin-6 levels and the rs1800795 variant in Turkish patients with COVID-19: a prospective cohort study

    Article • Nucleosides Nucleotides & Nucleic Acids, October 2023, Taylor & Francis

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  17. Effect of vitamin D receptor gene BsmI polymorphism on hospitalization of SARS-CoV-2 positive patients

    Article • Nucleosides Nucleotides & Nucleic Acids, August 2023, Taylor & Francis

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  18. YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review

    Article • European Journal of Medical Genetics, June 2023, Elsevier

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  19. Clock 3111 T/C and Period3 VNTR gene polymorphisms and proteins, and melatonin levels in women with infertility

    Article • Journal of Assisted Reproduction and Genetics, February 2023, Springer Science + Business Media

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  20. Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia

    Article • Journal of Medical Virology, January 2023, Wiley

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  21. Vascular endothelial growth factor gene insertion/deletion polymorphism is associated with Vitamin D level in Turkish patients with coronavirus disease 2019

    Article • Revista da Associação Médica Brasileira, January 2023, FapUNIFESP (SciELO)

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  22. <i>Endotheal Nitric Oxide Synthase</i> Gene VNTR Variant in Turkish FMF Patients

    Article • Bakirkoy Tip Dergisi / Medical Journal of Bakirkoy, December 2022, Journal of Clinical Research of Pediatric Endocrinology

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  23. Corrigendum

    Article • Journal of Medical Virology, November 2022, Wiley

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  24. The effect of a 18 bp deletion/insertion variant of VEGF gene on the FMF development

    Article • Nucleosides Nucleotides & Nucleic Acids, October 2022, Taylor & Francis

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  25. Possible effect of genetic background in thrombophilia genes on clinical severity of patients with coronavirus disease-2019: A prospective cohort study

    Article • Baghdad Journal of Biochemistry and Applied Biological Sciences, September 2022, Department of Chemistry and Biochemistry, Al-Nahrain University

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  26. Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS‐CoV‐2 from 946 whole‐exome sequencing data in the Turkish population

    Article • Journal of Medical Virology, July 2022, Wiley

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  27. The assessment of mesenchymal stem cells characteristics in cultured amniotic fluid cells

    Article • Acıbadem Üniversitesi Sağlık Bilimleri Dergisi, July 2022, Acibadem Universitesi Saglik Bilimleri Dergisi

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  28. Oocyte maturation abnormalities - A systematic review of the evidence and mechanisms in a rare but difficult to manage fertility pheneomina

    Article • Journal of Turkish Society of Obstetric and Gynecology, March 2022, Journal of Clinical Research of Pediatric Endocrinology

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  29. Derangements of vaginal and cervical canal microbiota determined with real-time PCR in women with recurrent miscarriages

    Article • Journal of Obstetrics and Gynaecology, February 2022, Taylor & Francis

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  30. Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

    Article • Functional & Integrative Genomics, January 2022, Springer Science + Business Media

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  31. Assessment of vaginal and endometrial microbiota by real‐time PCR in women with unexplained infertility

    Article • Journal of Obstetrics and Gynaecology Research, October 2021, Wiley

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  32. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

    Article • The American Journal of Human Genetics, October 2021, Elsevier

    ozlem sezer, VEHAP TOPÇU

  33. Angiotensin-converting enzyme-1 gene insertion/deletion polymorphism may be associated with COVID-19 clinical severity: a prospective cohort study

    Article • Annals of Saudi Medicine, June 2021, King Faisal Specialist Hospital and Research Centre

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  34. Genetic Management Algorithm in High-Risk Fabry Disease Cases; Especially in Female Indexes with Mutations

    Article • Endocrine Metabolic & Immune Disorders - Drug Targets, February 2021, Bentham Science Publishers

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  35. Evaluation of Infertile Patients Who Attended to Medical Genetics Outpatient Clinic with Hamilton Anxiety Scale

    Article • Ankara Medical Journal, January 2020, LookUs Bilisim, Ltd.

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  36. MTHFR gene C677T and A1298C variants are associated with FMF risk in a Turkish cohort

    Article • Journal of Clinical Laboratory Analysis, May 2017, Wiley

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  37. The IL4-VNTR P1 Allele, IL4-VNTR P2P2 Genotype, and IL4-VNTR_IL6-174CG P2P1-GG Genotype Are Associated with an Increased Risk of Brucellosis

    Article • Japanese Journal of Infectious Diseases, January 2017, Editorial Committee of Japanese Journal of Infectious Diseases, National Institute of Infectious Dis

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  38. Interleukin-1Ra rs2234663 and Interleukin-4 rs79071878 Polymorphisms in Familial Mediterranean Fever

    Article • Gene, May 2016, Elsevier

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  39. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

    Article • Neuron, November 2015, Elsevier

    Dr Serkan Erdin, VEHAP TOPÇU, ozlem sezer

  40. Association between colchicine resistance and vitamin D in familial Mediterranean fever

    Article • Renal Failure, June 2015, Taylor & Francis

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  41. Fibular aplasia, tibial campomelia, and oligosyndactyly

    Article • Clinical Dysmorphology, October 2014, Wolters Kluwer Health

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  42. Trisomy Xq and Xp Deletion Phenotype in a Case with Primary Amenorrhea and Mosaic 45,X/46,X,der(X) Karyotype: Case Report

    Article • Turkiye Klinikleri Journal of Medical Sciences, January 2011, Ortadogu Reklam Tanitim Yayincilik Turizm Egitim Insaat Sanayi ve Ticaret A.S.

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  43. Germ Cell Tumor Showing Partial Trisomy 1 in a Gonadectomized Intersex Child With Monosomy X and Double Y Mosaicism

    Article • Journal of Pediatric Hematology/Oncology, November 2006, Wolters Kluwer Health

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