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Page 1
Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant.
Merkuryeva E, Markova T, Tyurin A, Valeeva D, Kenis V, Sumina M, Sorokin I, Shchagina O, Skoblov M, Nefedova M, Khusainova R, Zakharova E, Dadali E, Kutsev S. Merkuryeva E, et al. Among authors: skoblov m. Int J Mol Sci. 2023 Apr 28;24(9):8021. doi: 10.3390/ijms24098021. Int J Mol Sci. 2023. PMID: 37175737 Free PMC article.
Clinical and Functional Characteristics of the E92K CFTR Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis.
Kondratyeva E, Melyanovskaya Y, Bulatenko N, Davydenko K, Filatova A, Efremova A, Skoblov M, Bukharova T, Sherman V, Voronkova A, Zhekaite E, Krasovskiy S, Amelina E, Petrova N, Polyakov A, Adyan T, Starinova M, Krasnova M, Vasilyev A, Makhnach O, Zinchenko R, Kutsev S, Gokdemir Y, Karadag B, Goldshtein D. Kondratyeva E, et al. Among authors: skoblov m. Int J Mol Sci. 2023 Mar 28;24(7):6351. doi: 10.3390/ijms24076351. Int J Mol Sci. 2023. PMID: 37047318 Free PMC article.
Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5'UTRs.
Filatova A, Reveguk I, Piatkova M, Bessonova D, Kuziakova O, Demakova V, Romanishin A, Fishman V, Imanmalik Y, Chekanov N, Skitchenko R, Barbitoff Y, Kardymon O, Skoblov M. Filatova A, et al. Among authors: skoblov m. Nucleic Acids Res. 2023 Feb 22;51(3):1229-1244. doi: 10.1093/nar/gkac1247. Nucleic Acids Res. 2023. PMID: 36651276 Free PMC article.
63 results