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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.
SAGE Open Medical Case Reports|June 5, 2023
Additional evidence on the phenotype produced by combination of Tinatin Tkemaladze, Eka Kvaratskhelia, Mariam Ghughunishvili, et al.
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