Journal Issue: Balkan J Med Genet Volume 26(2);  2023 Dec

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Journal List

Volume 26(2);  2023 Dec

Case Reports

Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21
A Paripović, A Maver, N Stajić, J Putnik, S Ostojić, B Alimpić, N Ilić, A Sarajlija
Balkan J Med Genet. 2023 Dec; 26(2): 59–64. Published online 2024 Mar 12. doi: 10.2478/bjmg-2023-0016
PMCID:
PMC10932596
Abstract Article PDF–499K
EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay
M Sleptsova, C Georgiev, S Atemin, P Dimova, D Avdjieva-Tzavella, G Tacheva, I Litvinenko, L Grozdanova, T Todorov, V Mitev, A Todorova
Balkan J Med Genet. 2023 Dec; 26(2): 65–68. Published online 2024 Mar 12. doi: 10.2478/bjmg-2023-0019
PMCID:
PMC10932599
Abstract Article PDF–280K
Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report
A Lamzouri, A EL Rherbi, I Ratbi, FZ Laarabi, R Chahboune, SC Elalaoui, H Hamdaoui, RS Bencheikh, A Sefiani
Balkan J Med Genet. 2023 Dec; 26(2): 69–72. Published online 2024 Mar 12. doi: 10.2478/bjmg-2023-0018
PMCID:
PMC10932594
Abstract Article PDF–279K
Severe Form of Salih Myopathy Caused by Combination of Two Heterozygous TTN Mutations
M Milojković, M Jarić, V Stojanović, N Barišić, I Kavečan
Balkan J Med Genet. 2023 Dec; 26(2): 73–76. Published online 2024 Mar 12. doi: 10.2478/bjmg-2023-0015
PMCID:
PMC10932597
Abstract Article PDF–196K
Experience with the Ketogenic Diet in a Boy with CLCN4 Related Neurodevelopmental Disorder
G Sager, U Yukselmis, O Güzel, A Turkyilmaz, M Akcay
Balkan J Med Genet. 2023 Dec; 26(2): 77–82. Published online 2024 Mar 12. doi: 10.2478/bjmg-2023-0013
PMCID:
PMC10932601
Abstract Article PDF–1.1M

Original Articles

Preimplantation Genetic Testing within the Public Healthcare System in Slovenia
M Volk, K Writzl, A Veble, H Jaklič, N Teran, B Prosenc, M Štimpfel, I Virant Klun, E Vrtačnik Bokal, H Ban Frangež, B Peterlin
Balkan J Med Genet. 2023 Dec; 26(2): 5–10. Published online 2024 Mar 12. doi: 10.2478/bjmg-2023-0017
PMCID:
PMC10932602
Abstract Article PDF–203K
Chromosomal Abnormalities in Early Pregnancy Losses: A Study of 900 Samples
Gj Bozhinovski, M Terzikj, K Kubelka-Sabit, Dz Jasar, S Lazarevski, V Livrinova, D Plaseska-Karanfilska
Balkan J Med Genet. 2023 Dec; 26(2): 11–20. Published online 2024 Mar 12. doi: 10.2478/bjmg-2023-0014
PMCID:
PMC10932600
Abstract Article PDF–391K
Droplet Digital PCR as a Molecular Tool for the Detection of the EGFR T790M Mutation in NSCLC Patients with the EGFR Activating Mutations
S Durgut, L Salihefendić, D Pećar, I Čeko, N Mulahuseinović, M Izmirlija, R Konjhodžić
Balkan J Med Genet. 2023 Dec; 26(2): 21–26. Published online 2024 Mar 12. doi: 10.2478/bjmg-2023-0020
PMCID:
PMC10932593
Abstract Article PDF–408K
Association Between the Polymorphism of Angiotensin-Converting Enzyme Gene and Interleukin-1 Beta Gene and the Response to Erythropoietin Therapy in Dialysis Patients with Anemia
P Dzekova-Vidimliski, N Eftimovska-Otovikj, I G Nikolov, Gj Selim, I Rambabova-Bushljetik, V Pushevski, V Karanfilovski, N Matevska-Geshovska, A Dimovski
Balkan J Med Genet. 2023 Dec; 26(2): 27–34. Published online 2024 Mar 12. doi: 10.2478/bjmg-2023-0022
PMCID:
PMC10932603
Abstract Article PDF–276K
Co-Existence of CYP2C19*1/*2 and ABCB1c.3435 CT Genotype has a Potential Impact on Clinical Outcome in CAD Patients Treated with Clopidogrel
KA Nestorovska, Z Naumovska, M Staninova Stojovska, Z Sterjev, A Dimovski, Lj Suturkova
Balkan J Med Genet. 2023 Dec; 26(2): 35–40. Published online 2024 Mar 12. doi: 10.2478/bjmg-2023-0023
PMCID:
PMC10932604
Abstract Article PDF–331K
Determination of the Relationship Between DNA Methylation Status of KLOTHO and ARNTL Genes With Hypertension
M Osum, O Tosun, H Birtan, R Kalkan
Balkan J Med Genet. 2023 Dec; 26(2): 41–50. Published online 2024 Mar 12. doi: 10.2478/bjmg-2023-0024
PMCID:
PMC10932598
Abstract Article PDF–1.0M
Do Gene Polymorphisms Play a Role in Newborn Hyperbilirubinemia?
N Hakan, M Aydin, S Ceylaner, D Dilli, A Zenciroğlu, N Okumuş
Balkan J Med Genet. 2023 Dec; 26(2): 51–58. Published online 2024 Mar 12. doi: 10.2478/bjmg-2023-0021
PMCID:
PMC10932595
Abstract Article PDF–274K
Articles from Balkan Journal of Medical Genetics : BJMG are provided here courtesy of De Gruyter