Balkan Journal of Medical Genetics

Papers
(The median citation count of Balkan Journal of Medical Genetics is 1. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-05-01 to 2025-05-01.)
ArticleCitations
A novel Loss-of-function Mutation in MYBPC3 Causes familial hypertrophic cardiomyopathy with extreme intrafamilial phenotypic heterogeneity8
Association of NFKB1, NKX2-5, GATA4 and RANKL gene polymorphisms with sporadic congenital heart disease in Greek patients7
Increased expression of Cardiotrophin-1 in cardiomyopathy patients5
Targeted microRNA Profiling in Gastric Cancer with Clinical Assessement4
Do Gene Polymorphisms Play a Role in Newborn Hyperbilirubinemia?4
Preimplantation Genetic Testing within the Public Healthcare System in Slovenia4
Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report4
Determination of the Relationship Between DNA Methylation Status of KLOTHO and ARNTL Genes With Hypertension4
Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 213
Two years of newborn screening for cystic fibrosis in North Macedonia: First experience3
APOE4 Status and cognitive function in middle-aged and elderly people3
PCSK9 gene participates in the development of primary dyslipidemias3
Simultaneously both expression of LMP-1 and methylation of E-cadherin: Molecular biomarker in stage IV of nasopharyngeal carcinoma patients3
Droplet Digital PCR as a Molecular Tool for the Detection of the EGFR T790M Mutation in NSCLC Patients with the EGFR Activating Mutations3
Chromosomal Abnormalities in Early Pregnancy Losses: A Study of 900 Samples3
Duplication of chromosome 16p13.11-p12.3 with different expressions in the same family2
Vitamin D receptor polymorphisms among the Turkish population are associated with multiple sclerosis2
Keratitis-ichthyosis-deafness syndrome with heterozygous p.D50N in the GJB2 gene in two Serbian adult patients2
Familial atypical hemolytic uremic syndrome with positive p.S1191L (c.3572C>T) mutation on the CFH gene: A single-center experience2
Association Between the Polymorphism of Angiotensin-Converting Enzyme Gene and Interleukin-1 Beta Gene and the Response to Erythropoietin Therapy in Dialysis Patients with Anemia2
Risk Factors of Venous Thromboembolism in Sudanese Pregnant Women1
de novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita1
“We’ve opened pandora’s box, haven’t we?” clinical geneticists’ views on ethical aspects of genomic testing in neonatal intensive care1
Double isochromosome X, A rare cytogenetic variant of turner syndrome: A case report and a review of the literature1
Matrix metalloproteinase-2 (MMP-2 ) and-9 (MMP-9) gene variants and microvascular complications in type 2 diabetes patients1
GA genotype of the Arg280His polymorphism on the XRCC1 gene: Genetic susceptibility genotype in differentiated thyroid carcinomas?1
Single nucleotide polymorphisms in IL-1A RS1800587, IL-1B RS1143634 and vitamin D receptor rs731236 in stage III grade B/C periodontitis1
Identification of key target genes and pathway analysis in nonalcoholic fatty liver disease via integrated bioinformatics analysis1
Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac Anomalies1
Dual effect of the GHRL gene variant in the molecular pathogenesis of obesity1
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