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Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
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
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Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene.
Sharova M, Guseva D, Kurenkov A, Novoselova O, Murtazina A, Skoblov M.
Sharova M, et al.
Am J Med Genet A. 2022 Oct;188(10):3100-3105. doi: 10.1002/ajmg.a.62898. Epub 2022 Jul 15.
Am J Med Genet A. 2022.
PMID: 35838082
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Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.
Markova TV, Kenis V, Melchenko E, Guseva D, Osipova D, Galeeva N, Nagornova T, Dadali EL.
Markova TV, et al.
Mol Genet Genomic Med. 2022 May;10(5):e1904. doi: 10.1002/mgg3.1904. Epub 2022 Mar 21.
Mol Genet Genomic Med. 2022.
PMID: 35315254
Free PMC article.
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[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.
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mRNA analysis revealed a novel pathogenic EIF2S3 variant causing MEHMO syndrome.
Ivanova N, Serzhanova V, Demina N, Guseva D, Skoblov M.
Ivanova N, et al.
Eur J Med Genet. 2022 Feb;65(2):104421. doi: 10.1016/j.ejmg.2022.104421. Epub 2022 Jan 7.
Eur J Med Genet. 2022.
PMID: 34999262
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[ELECTROPHORETIC STUDY OF THE SERUM PROTEINS IN THE PRESENCE OF INFLUENZA A2 VIRUS].
MUSABAEV IK, GUSEVA DM.
MUSABAEV IK, et al. Among authors: guseva dm.
Zh Mikrobiol Epidemiol Immunobiol. 1963 Apr;40:38-43.
Zh Mikrobiol Epidemiol Immunobiol. 1963.
PMID: 14072289
Russian.
No abstract available.
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[Alkaline phosphatase in the blood of patients with viral influenza A2].
MUSABAEV IK, GUSEVA DM.
MUSABAEV IK, et al. Among authors: guseva dm.
Med Zh Uzb. 1962 Feb;2:9-17.
Med Zh Uzb. 1962.
PMID: 14477515
Russian.
No abstract available.
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