Alizada Sevda Aydin, Aliyeva Kamila Ali Agha, Musayev Shirkhan Aftandil, Rasulov Elkhan Mammad Rasul. Genetic Heterogeneity of Iduronate-2-Sulfatase in Children Diagnosed with Mucopolysaccharidosis Type II in Azerbaijan. G Biomed N 22 Mar 2023;Volume 1(Issue 1):56-58

​

Link to the full article

​

Kakha Bregvadze, Ekaterine Kvaratskhelia, Marika Mdivnishvili, Ani Murtskvaladze, Tinatin Tkemaladze. Novel Variants in MCM8 Associated with Primary Ovarian Insufficiency, Short Stature, and Congenital Anomalies of the Kidneys in a Patient from Georgia: A Case Report. G Biomed N 22 Mar 2024;Volume 2(Issue 3):157-159. DOI: 10.52340/GBMN.2024.01.01.83

​

Link to the full article

​

Kakha Bregvadze, Luka Abashishvili, Elene Phagava, Tinatin Tkemaladze. Health-related Quality of Life Among Patients with Phosphomannomutase 2 Congenital Disorder of Glycosylation in Georgia. G Biomed N 10 Sep 2025;Volume 3(Issue 3):115-117. DOI: 10.52340/GBMN.2025.01.01.124

​

Link to the full article

​

Kakha Bregvadze, Luka Abashishvili, Elene Phagava, Tinatin Tkemaladze. Health-Related Quality of Life Among Children with Neuromuscular Diseases in Georgia. G Biomed N 10 Sep 2025;Volume 3(Issue 3):118-120. DOI: 10.52340/GBMN.2025.01.01.125

​

Link to the full article

​

Kakha Bregvadze, Luka Abashishvili, Helen Phagava, Elene Abzianidze, Tinatin Tkemaladze. Health-Related Quality of Life in Georgian Children with Mendelian Disorders of the Epigenetic Machinery: A Cross-Sectional Study. G Biomed N 21 Dec 2025;Volume 3(Issue 3):205-207. DOI: 10.52340/GBMN.2025.01.01.145

​

Link to the full article