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Page 1
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
Miroshnikova VV, Romanova OV, Ivanova ON, Fedyakov MA, Panteleeva AA, Barbitoff YA, Muzalevskaya MV, Urazgildeeva SA, Gurevich VS, Urazov SP, Scherbak SG, Sarana AM, Semenova NA, Anisimova IV, Guseva DM, Pchelina SN, Glotov AS, Zakharova EY, Glotov OS. Miroshnikova VV, et al. Among authors: guseva dm. Biomed Rep. 2021 Jan;14(1):15. doi: 10.3892/br.2020.1391. Epub 2020 Nov 17. Biomed Rep. 2021. PMID: 33269076 Free PMC article.
Alkaptonuria in Russia: mutational spectrum and novel variants.
Bychkov I, Kamenets E, Kurkina M, Rychkov G, Ilyushkina A, Filatova A, Guseva D, Baydakova G, Nekrasov A, Cheblokov A, Skoblov M, Zakharova E. Bychkov I, et al. Eur J Med Genet. 2021 Apr;64(4):104165. doi: 10.1016/j.ejmg.2021.104165. Epub 2021 Feb 20. Eur J Med Genet. 2021. PMID: 33621656
[AP4-assocated hereditary spastic paraplegias].
Rudenskaya GE, Guseva DM, Mironovich OL, Kadnikova VA, Dadali EL, Komar'kov IF, Novoselova OG, Ryzhkova OP. Rudenskaya GE, et al. Among authors: guseva dm. Zh Nevrol Psikhiatr Im S S Korsakova. 2021;121(2):71-78. doi: 10.17116/jnevro202112102171. Zh Nevrol Psikhiatr Im S S Korsakova. 2021. PMID: 33728854 Russian.
[Developmental and epileptic encephalopathy produced by the ATP1A2 mutation].
Rudenskaya GE, Guseva DM, Shatokhina OL, Kadnikova VA, Filatova AY, Skoblov MY, Ryzhkova OP. Rudenskaya GE, et al. Among authors: guseva dm. Zh Nevrol Psikhiatr Im S S Korsakova. 2024;124(6):133-138. doi: 10.17116/jnevro2024124061133. Zh Nevrol Psikhiatr Im S S Korsakova. 2024. PMID: 39072579 Russian.