All Stories

  1. Cystic fibrosis mutation spectrum in north macedonia: A step toward personalized therapy
  2. Multilevel regression modeling for aneuploidy classification and physical separation of maternal cell contamination facilitates the QF-PCR based analysis of common fetal aneuploidies
  3. MicroRNA expression profiles in testicular biopsies of patients with impaired spermatogenesis
  4. Rare ATAD5 missense variants in breast and ovarian cancer patients
  5. Loss of Y Chromosome in Peripheral Blood of Colorectal and Prostate Cancer Patients
  6. MicroRNA Profiling in Patients with Upper Tract Urothelial Carcinoma Associated with Balkan Endemic Nephropathy
  7. Hb G-Waimanalo [A1] or α 64(E13)Asp→Asn ( α 1) ( HBA1 : c.193G>A) Observed in a Bulgarian Family
  8. HPV E6/E7 mRNA versus HPV DNA biomarker in cervical cancer screening of a group of Macedonian women
  9. Identification of six novel F9 mutations among haemophilia B patients from Macedonia and Bulgaria
  10. Clinical Relevance of CHEK2 And NBN Mutations in the Macedonian Population
  11. CYP2D6 allele distribution in Macedonians, Albanians and Romanies in the Republic of Macedonia
  12. “Balkan Journal of Medical Genetics” - Facts, Editorial Policies, Practices and Challenges
  13. SNaPshot Assay for the Detection of the Most Common CFTR Mutations in Infertile Men
  14. Breast cancer susceptibility genes in Macedonian breast cancer patients
  15. Fast, reliable and low cost user-developed protocol for detection, quantification and genotyping of hepatitis C virus
  16. The utility of molecular and immunohistochemical techniques in diagnosing molar pregnancies
  17. Study of Three Single Nucleotide Polymorphisms in the Slc6a14 Gene in Association with Male Infertility
  18. Fanconi Anemia Founder Mutation in Macedonian Patients
  19. Prevalence of hepatitis C virus genotypes in risk groups in the Republic of Macedonia: A 5 years survey
  20. Genomic profiling of breast cancer
  21. A Homozygous Deletion of the DPY19L2 Gene is a Cause of Globozoospermia in Men From the Republic of Macedonia
  22. Molecular characterization of cystinuria in south-eastern European countries
  23. Efficient Detection of Mediterranean β-Thalassemia Mutations by Multiplex Single-Nucleotide Primer Extension
  24. Detection of Thrombophilic Mutations Related to Spontaneous Abortions by a Multiplex SNaPshot Method
  25. Cag Repeat Number in the Androgen Receptor Gene and Prostate Cancer
  26. Human Genetic Diseases
  27. Detection of the Most Common Genetic Causes of Male Infertility by Quantitative Fluorescent (QF)-PCR Analysis
  28. Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes
  29. Professor Georgi D. Efremov (1932–2011)
  30. Y Chromosome Single Nucleotide Polymorphisms Typing by SNaPshot MINISEQUENCING
  31. Five Novel Mutations in Cystinuria Genes SLC3A1 and SLC7A9
  32. Quantitative Fluorescent-PCR Detection of Sex Chromosome Aneuploidies and AZF Deletions/Duplications
  33. Prenatal Diagnosis of Spinal Muscular Atrophy in Macedonian Families
  34. Molecular basis of cystic fibrosis in the Republic of Macedonia
  35. Prenatal Diagnosis in Macedonian Duchenne Muscular Dystrophy Families
  36. Cag Repeat Number in Androgen Receptor Gene and Male Infertility
  37. CAG Repeat Polymorphism of the Mitochondrial DNA Polymerase Gamma Gene in Macedonian Infertile and Fertile Men
  38. Hb Jambol: A New Hyperunstable Hemoglobin Causing Severe Hemolytic Anemia
  39. Non-invasive fetal sex determination using real-time PCR
  40. MICROSATELLITE INSTABILITY OF COLORECTAL CANCERS AMONG MACEDONIAN PATIENTS
  41. Hb Saint Etienne or Hb Istanbul [β92(F8)His→Gln] Found in An Argentinean Family
  42. Hb Rambam [β69(E13)Gly→Asp]/β0-Thalassemia [Codon 5 (-CT)] in a Family from Argentina
  43. HB old Dominion/Burton-upon-Trent or β143(H2l)His→TYR, Found in a Diabetic Woman from Korea
  44. Hb Brockton [βl38(H16)Ala→Pro] Observed in a Chinese Boy
  45. A New β Chain Variant, Hb Vienna or β77(EF1)His→Gln
  46. HB F-Macedonia-II [Gγ104(G6)LYS→ASN]: A New γ chain variant