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Author

Kakha Bregvadze

Observed names: Bregvadze Kakha, KAKHA BREGVADZE
Observed institution: Tbilisi State Medical University
ORCID: 0000-0002-6506-0632
Observed ORCID: 0000-0002-6506-0632
OpenAlex ID: A5071264089
Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders
2025 · Tinatin Tkemladze, Christopher Campbell, et al. · European Journal of Human Genetics · 8
A novel STAG1 variant associated with congenital clubfoot and microphthalmia: A case report
2024 · Kakha Bregvadze, Anastasia Sukhiashvili, et al. · SAGE Open Medical Case Reports · 7
MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly
2023 · Tinatin Tkemaladze, Eirik Bratland, et al. · Clinical Dysmorphology · 6
Genetic and Clinical Characterization of Complex Glycerol Kinase Deficiency in Two Male Siblings: A Case Report
2025 · Kakha Bregvadze, Nino Kheladze, et al. · Clinical Medicine Insights Endocrinology and Diabetes · 5
First case report of Nager syndrome patient from Georgia
2022 · Tinatin Tkemaladze, Kakha Bregvadze, et al. · SAGE Open Medical Case Reports · 5
Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series
2024 · Kakha Bregvadze, Luka Abashishvili, et al. · Frontiers in Genetics · 4
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A founder COL4A3 pathogenic variant resulting in Alport syndrome and thin basement membrane disease: a case report series
2023 · Tinatin Tkemaladze, Kakha Bregvadze, et al. · Frontiers in Medicine · 4
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A de novo chromosome 9p duplication in a female child with short stature and developmental delay
2023 · Tinatin Tkemaladze, Kakha Bregvadze, et al. · SAGE Open Medical Case Reports · 4
A case of Chopra-Amiel-Gordon syndrome with a novel heterozygous variant in the ANKRD17 gene: A case report
2023 · Tkemaladze Tinatin, Bregvadze Kakha, et al. · SAGE Open Medical Case Reports · 4
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The complexity of phosphatase and tensin homolog hamartoma tumor syndrome: A case report
2024 · Kakha Bregvadze, Sheeda Jabeen, et al. · SAGE Open Medical Case Reports · 2
Clinical and Genetic Landscape of IGHMBP2 ‐Related Disorders: From Novel Variants to Phenotypic Insights
2025 · Tinatin Tkemaladze, Kakha Bregvadze, et al. · American Journal of Medical Genetics Part A · 1
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Novel m.3764C>G variant in MT-ND1 linked to severe MELAS syndrome: A case report
2025 · Teona Shatirishvili, Zura Katsitadze, et al. · Brain and Development Case Reports · 1
Plaque-like cutaneous mucinosis associated with pain: A case report
2024 · Kakha Bregvadze, Lally Mekokishvili · SAGE Open Medical Case Reports · 1
Health-Related Quality of Life in Georgian Children with Mendelian Disorders of the Epigenetic Machinery: A Cross-Sectional Study
2025 · Kakha Bregvadze, Luka Abashishvili, et al. · Georgian Biomedical News
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Health-related Quality of Life Among Patients with Phosphomannomutase 2 Congenital Disorder of Glycosylation in Georgia
2025 · Kakha Bregvadze, Luka Abashishvili1, et al. · Georgian Biomedical News
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Health-Related Quality of Life Among Children with Neuromuscular Diseases in Georgia
2025 · Kakha Bregvadze, Luka Abashishvili, et al. · Georgian Biomedical News
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Health-related quality of life among pediatric patients with neuromuscular diseases in Georgia
2025 · Kakha Bregvadze, Tinatin Tkemaladze · Advances in Patient-Reported Outcomes
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
2024 · Kakha Bregvadze, Ekaterine Kvaratshelia, et al. · Georgian Biomedical News
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First Case Report of Papillon-lefèvre Syndrome From Georgia
2022 · TINATIN TKEMALADZE, KAKHA BREGVADZE, et al. · EXPERIMENTAL & CLINICAL MEDICINE GEORGIA
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Management of asthma during pregnancy by consultant allergists: care is still not in consonance with clinical practice guidelines
2019 · Kakha Bregvadze · European Respiratory Journal
Works count: 20
Citation count: 52
H-index: 5
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