Balkan Journal of Medical Genetics

Papers
(The TQCC of Balkan Journal of Medical Genetics is 2. 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 2021-04-01 to 2025-04-01.)
ArticleCitations
A novel Loss-of-function Mutation in MYBPC3 Causes familial hypertrophic cardiomyopathy with extreme intrafamilial phenotypic heterogeneity8
Single nucleotide polymorphisms in IL-1A RS1800587, IL-1B RS1143634 and vitamin D receptor rs731236 in stage III grade B/C periodontitis7
APOE4 Status and cognitive function in middle-aged and elderly people5
Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of Literature4
GA genotype of the Arg280His polymorphism on the XRCC1 gene: Genetic susceptibility genotype in differentiated thyroid carcinomas?4
Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac Anomalies4
Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation4
Novel mutation in the COL11A1 gene causing Marshall-Stickler syndrome in three generations of a Bulgarian family3
Droplet Digital PCR as a Molecular Tool for the Detection of the EGFR T790M Mutation in NSCLC Patients with the EGFR Activating Mutations3
Association Between the Polymorphism of Angiotensin-Converting Enzyme Gene and Interleukin-1 Beta Gene and the Response to Erythropoietin Therapy in Dialysis Patients with Anemia3
Dual effect of the GHRL gene variant in the molecular pathogenesis of obesity3
de novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita3
Vitamin D receptor polymorphisms among the Turkish population are associated with multiple sclerosis3
Co-Existence of CYP2C19*1/*2 and ABCB1c.3435 CT Genotype has a Potential Impact on Clinical Outcome in CAD Patients Treated with Clopidogrel3
Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report2
Two years of newborn screening for cystic fibrosis in North Macedonia: First experience2
PCSK9 gene participates in the development of primary dyslipidemias2
Increased expression of Cardiotrophin-1 in cardiomyopathy patients2
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