All Stories

  1. SYSTEMIC IMMUNE INFLAMMATION INDEX AND PAN-IMMUNE INFLAMMATION VALUE IN PREDICTING HUMAN LEUKOCYTE ANTIGEN-B27 POSITIVITY: A STUDY ON ANKYLOSING SPONDYLITIS PATIENTS
  2. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
  3. Hyperekplexia: A Single-Center Experience
  4. Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study
  5. Association of MIF-173G/C, IL-4 VNTR, and IL-1RA VNTR variants with FMF-related amyloidosis in a Turkish cohort
  6. TUBB8 mutations as a cause of oocyte maturation abnormalities: presentation of oocyte and embryo profiles and novel mutations
  7. Evaluating interleukin-6 levels and the rs1800795 variant in Turkish patients with COVID-19: a prospective cohort study
  8. Effect of vitamin D receptor gene BsmI polymorphism on hospitalization of SARS-CoV-2 positive patients
  9. YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review
  10. Clock 3111 T/C and Period3 VNTR gene polymorphisms and proteins, and melatonin levels in women with infertility
  11. Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia
  12. Vascular endothelial growth factor gene insertion/deletion polymorphism is associated with Vitamin D level in Turkish patients with coronavirus disease 2019
  13. <i>Endotheal Nitric Oxide Synthase</i> Gene VNTR Variant in Turkish FMF Patients
  14. Corrigendum
  15. The effect of a 18 bp deletion/insertion variant of VEGF gene on the FMF development
  16. Possible effect of genetic background in thrombophilia genes on clinical severity of patients with coronavirus disease-2019: A prospective cohort study
  17. 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
  18. The assessment of mesenchymal stem cells characteristics in cultured amniotic fluid cells
  19. Oocyte maturation abnormalities - A systematic review of the evidence and mechanisms in a rare but difficult to manage fertility pheneomina
  20. Derangements of vaginal and cervical canal microbiota determined with real-time PCR in women with recurrent miscarriages
  21. Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
  22. Assessment of vaginal and endometrial microbiota by real‐time PCR in women with unexplained infertility
  23. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
  24. Angiotensin-converting enzyme-1 gene insertion/deletion polymorphism may be associated with COVID-19 clinical severity: a prospective cohort study
  25. Genetic Management Algorithm in High-Risk Fabry Disease Cases; Especially in Female Indexes with Mutations
  26. Evaluation of Infertile Patients Who Attended to Medical Genetics Outpatient Clinic with Hamilton Anxiety Scale
  27. MTHFR gene C677T and A1298C variants are associated with FMF risk in a Turkish cohort
  28. 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
  29. Interleukin-1Ra rs2234663 and Interleukin-4 rs79071878 Polymorphisms in Familial Mediterranean Fever
  30. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
  31. Association between colchicine resistance and vitamin D in familial Mediterranean fever
  32. Fibular aplasia, tibial campomelia, and oligosyndactyly
  33. Trisomy Xq and Xp Deletion Phenotype in a Case with Primary Amenorrhea and Mosaic 45,X/46,X,der(X) Karyotype: Case Report
  34. Germ Cell Tumor Showing Partial Trisomy 1 in a Gonadectomized Intersex Child With Monosomy X and Double Y Mosaicism