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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.
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.
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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A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report.
Okuneva EG, Kozina AA, Baryshnikova NV, Krasnenko AY, Tsukanov KY, Klimchuk OI, Surkova EI, Ilinsky VV.
Okuneva EG, et al. Among authors: kozina aa.
BMC Dermatol. 2019 Jan 31;19(1):4. doi: 10.1186/s12895-019-0084-6.
BMC Dermatol. 2019.
PMID: 30704477
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.
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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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.
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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Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report.
Kozina AA, Baryshnikova NV, Ilinskaya AY, Kim AA, Plotnikov NA, Pogodina NA, Surkova EI, Shatalov PA, Ilinsky VV.
Kozina AA, et al.
J Int Med Res. 2022 Dec;50(12):3000605221139718. doi: 10.1177/03000605221139718.
J Int Med Res. 2022.
PMID: 36567457
Free PMC article.
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A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene.
Kozina AA, Kanaeva GK, Baryshnikova NV, Ilinskaya AY, Kim AA, Erofeeva AV, Pogodina NA, Gadzhiyeva JP, Surkova EI, Ilinsky VV.
Kozina AA, et al.
J Int Med Res. 2023 Oct;51(10):3000605231206294. doi: 10.1177/03000605231206294.
J Int Med Res. 2023.
PMID: 37910852
Free PMC article.
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[Modern antidepressants in complex management of patients with hypertension and concomitant affective disorders].
Vasiuk IuA, Nesterova EA, Dovzhenko TV, Kozina AA, Sadulaeva IA, Tarasova KV.
Vasiuk IuA, et al. Among authors: kozina aa.
Kardiologiia. 2004;44(8):72-9.
Kardiologiia. 2004.
PMID: 15340337
Russian.
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