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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.
BMC Nephrol. 2019 Oct 26;20(1):389. doi: 10.1186/s12882-019-1579-4.
BMC Nephrol. 2019.
PMID: 31655555
Free PMC article.
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: tsukanov ky.
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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[A bioinformatic pipeline for NGS data analysis and mutation calling in human solid tumors].
Tsukanov KY, Krasnenko AY, Plakhina DA, Korostin DO, Churov AV, Druzhilovskaya OS, Rebrikov DV, Ilinsky VV.
Tsukanov KY, et al.
Biomed Khim. 2017 Oct;63(5):413-417. doi: 10.18097/PBMC20176305413.
Biomed Khim. 2017.
PMID: 29080873
Russian.
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NIPT Technique Based on the Use of Long Chimeric DNA Reads.
Belova V, Plakhina D, Evfratov S, Tsukanov K, Khvorykh G, Rakitko A, Konoplyannikov A, Ilinsky V, Rebrikov D, Korostin D.
Belova V, et al.
Genes (Basel). 2020 May 26;11(6):590. doi: 10.3390/genes11060590.
Genes (Basel). 2020.
PMID: 32466452
Free PMC article.
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The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research.
Salgado D, Armean IM, Baudis M, Beltran S, Capella-Gutierrez S, Carvalho-Silva D, Dominguez Del Angel V, Dopazo J, Furlong LI, Gao B, Garcia L, Gerloff D, Gut I, Gyenesei A, Habermann N, Hancock JM, Hanauer M, Hovig E, Johansson LF, Keane T, Korbel J, Lauer KB, Laurie S, Leskošek B, Lloyd D, Marques-Bonet T, Mei H, Monostory K, Piñero J, Poterlowicz K, Rath A, Samarakoon P, Sanz F, Saunders G, Sie D, Swertz MA, Tsukanov K, Valencia A, Vidak M, Yenyxe González C, Ylstra B, Béroud C.
Salgado D, et al.
F1000Res. 2020 Oct 13;9:ELIXIR-1229. doi: 10.12688/f1000research.24887.1. eCollection 2020.
F1000Res. 2020.
PMID: 34367618
Free PMC article.
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The European Variation Archive: a FAIR resource of genomic variation for all species.
Cezard T, Cunningham F, Hunt SE, Koylass B, Kumar N, Saunders G, Shen A, Silva AF, Tsukanov K, Venkataraman S, Flicek P, Parkinson H, Keane TM.
Cezard T, et al.
Nucleic Acids Res. 2022 Jan 7;50(D1):D1216-D1220. doi: 10.1093/nar/gkab960.
Nucleic Acids Res. 2022.
PMID: 34718739
Free PMC article.
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The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification.
Wagner AH, Babb L, Alterovitz G, Baudis M, Brush M, Cameron DL, Cline M, Griffith M, Griffith OL, Hunt SE, Kreda D, Lee JM, Li S, Lopez J, Moyer E, Nelson T, Patel RY, Riehle K, Robinson PN, Rynearson S, Schuilenburg H, Tsukanov K, Walsh B, Konopko M, Rehm HL, Yates AD, Freimuth RR, Hart RK.
Wagner AH, et al.
Cell Genom. 2021 Nov 10;1(2):100027. doi: 10.1016/j.xgen.2021.100027.
Cell Genom. 2021.
PMID: 35311178
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: tsukanov ky.
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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