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elena okuneva
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Elena Kunaeva
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Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.
Mol Genet Genomic Med. 2020 Jul;8(7):e1228. doi: 10.1002/mgg3.1228. Epub 2020 May 15.
Mol Genet Genomic Med. 2020.
PMID: 32412666
Free PMC article.
Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report.
Kozina AA, Okuneva EG, Baryshnikova NV, Fedonyuk ID, Kholin AA, Il'ina ES, Krasnenko AY, Stetsenko IF, Plotnikov NA, Klimchuk OI, Surkova EI, Ilinsky VV.
Kozina AA, et al. Among authors: okuneva eg.
BMC Med Genet. 2020 Oct 21;21(1):209. doi: 10.1186/s12881-020-01119-6.
BMC Med Genet. 2020.
PMID: 33087045
Free PMC article.
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A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report.
Kozina AA, Okuneva EG, Baryshnikova NV, Krasnenko AY, Tsukanov KY, Klimchuk OI, Kondakova OB, Larionova AN, Batysheva TT, Surkova EI, Shatalov PA, Ilinsky VV.
Kozina AA, et al. Among authors: okuneva eg.
BMC Med Genet. 2018 Aug 25;19(1):151. doi: 10.1186/s12881-018-0669-7.
BMC Med Genet. 2018.
PMID: 30144815
Free PMC article.
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Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report.
Kozina AA, Trofimova TA, Okuneva EG, Baryshnikova NV, Obuhova VA, Krasnenko AY, Tsukanov KY, Klimchuk OI, Surkova EI, Shatalov PA, Ilinsky VV.
Kozina AA, et al. Among authors: okuneva eg.
BMC Nephrol. 2019 Oct 26;20(1):389. doi: 10.1186/s12882-019-1579-4.
BMC Nephrol. 2019.
PMID: 31655555
Free PMC article.
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Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation.
Anastasiya KA, Elena OG, Natalia BV, Anna KY, Kirill TY, Olesya KI, Tatiana NA, Inessa FD, Ekaterina SI, Peter SA, Valery IV.
Anastasiya KA, et al. Among authors: elena og.
Clin Case Rep. 2018 Aug 11;6(9):1871-1876. doi: 10.1002/ccr3.1678. eCollection 2018 Sep.
Clin Case Rep. 2018.
PMID: 30214781
Free PMC article.
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