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Balkan Journal of Medical Genetics : BJMG|March 12, 2025
Value of Optical Genome Mapping (OGM) for Diagnostics of Rare Diseases: A Family Case ReportA Kovanda, O Miljanović, L Lovrečić, et al.
Balkan Journal of Medical Genetics : BJMG|March 12, 2025
Interleukin-1β and Tumor Necrosis Factor-α Gene Polymorphisms in Systemic SclerosisM A Hakami, B S Alotaibi, S S Alkhalil, et al.
Balkan Journal of Medical Genetics : BJMG|March 14, 2024
Experience with the Ketogenic Diet in a Boy with CLCN4 Related Neurodevelopmental DisorderG Sager, U Yukselmis, O Güzel, et al.
Balkan Journal of Medical Genetics : BJMG|March 14, 2024
Chromosomal Abnormalities in Early Pregnancy Losses: A Study of 900 SamplesGj Bozhinovski, M Terzikj, K Kubelka-Sabit, et al.
Balkan Journal of Medical Genetics : BJMG|March 14, 2024
Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21A Paripović, A Maver, N Stajić, et al.
Balkan Journal of Medical Genetics : BJMG|March 14, 2024
EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental DelayM Sleptsova, C Georgiev, S Atemin, et al.
Balkan Journal of Medical Genetics : BJMG|September 12, 2024
Novel DGAT1 Mutations Identified in Congenital Diarrheal Disorder 7: A Case Report with Therapeutic ExperienceC Shi, X L Liu, X N Li, et al.
Balkan Journal of Medical Genetics : BJMG|September 12, 2024
Ultra-Early Diffuse Lung Disease in an Infant with Pathogenic Variant in Telomerase Reverse Transcriptase (TERT) GeneJ Visekruna, M Basa, T Grba, et al.
Balkan Journal of Medical Genetics : BJMG|September 12, 2024
The Impact of the COVID-19 Pandemic on Individuals with Down Syndrome: A Croatian SurveyA Barišić, M Ergović Ravančić, D Majstorović, et al.
Balkan Journal of Medical Genetics : BJMG|August 14, 2023
Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase DeficiencyM Parezanović, N Ilić, S Ostojić, et al.
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