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SAGE Open Medical Case Reports|April 8, 2024
The complexity of phosphatase and tensin homolog hamartoma tumor syndrome: A case reportKakha Bregvadze, Sheeda Jabeen, Shifa Mohamed Rafi, et al.
SAGE Open Medical Case Reports|September 3, 2024
A novel STAG1 variant associated with congenital clubfoot and microphthalmia: A case reportKakha Bregvadze, Anastasia Sukhiashvili, Megi Lartsuliani, et al.
Radiology Case Reports|September 29, 2021
Neuroendocrine pancreatic tumor in a patient with dual diagnosis of tuberous sclerosis complex and basement membrane disease: A case report and review of the literatureSaba Kopadze, Inga Shoshiashvili, Anna Dumbadze, et al.
SAGE Open Medical Case Reports|March 27, 2023
A de novo chromosome 9p duplication in a female child with short stature and developmental delayTinatin Tkemaladze, Kakha Bregvadze, Nikoloz Papiashvili, et al.
Frontiers in Medicine|January 8, 2024
A founder <i>COL4A3</i> pathogenic variant resulting in Alport syndrome and thin basement membrane disease: a case report seriesTinatin Tkemaladze, Kakha Bregvadze, Eka Kvaratskhelia, et al.
SAGE Open Medical Case Reports|December 19, 2022
First case report of Nager syndrome patient from GeorgiaTinatin Tkemaladze, Kakha Bregvadze, Eka Kvaratskhelia, et al.
Respirology Case Reports|April 23, 2026
Cystic Fibrosis-Related Diabetes and Celiac Disease in a Paediatric CF Patient: Presence of CFRD-Associated SNPs rs7903146 (TT) and rs4077468 (GG)Eka Kvaratskhelia, Dodo Agladze, Nino Vardosanidze, et al.
Respiratory Medicine Case Reports|October 14, 2022
Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case reportTinatin Tkemaladze, Eka Kvaratskhelia, Mariam Ghughunishvili, et al.
Clinical Medicine Insights. Endocrinology and Diabetes|April 2, 2025
Genetic and Clinical Characterization of Complex Glycerol Kinase Deficiency in Two Male Siblings: A Case ReportKakha Bregvadze, Nino Kheladze, Nana Nino Tatishvili, et al.
Clinical Dysmorphology|May 17, 2023
MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactylyTinatin Tkemaladze, Eirik Bratland, Kakha Bregvadze, et al.
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