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The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.
Genes (Basel). 2024 Jan 29;15(2):180. doi: 10.3390/genes15020180.
Genes (Basel). 2024.
PMID: 38397171
Free PMC article.
[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: novoselova og.
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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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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Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.
Petrova NV, Kashirskaya NY, Saydaeva DK, Polyakov AV, Adyan TA, Simonova OI, Gorinova YV, Kondratyeva EI, Sherman VD, Novoselova OG, Vasilyeva TA, Marakhonov AV, Macek M Jr, Ginter EK, Zinchenko RA.
Petrova NV, et al. Among authors: novoselova og.
BMC Med Genet. 2019 Mar 21;20(1):44. doi: 10.1186/s12881-019-0785-z.
BMC Med Genet. 2019.
PMID: 30898088
Free PMC article.
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High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia.
Petrova NV, Kashirskaya NY, Vasilyeva TA, Timkovskaya EE, Voronkova AY, Shabalova LA, Kondratyeva EI, Sherman VD, Novoselova OG, Kapranov NI, Zinchenko RA, Ginter EK, Makaov AKh, Kerem B.
Petrova NV, et al. Among authors: novoselova og.
J Cyst Fibros. 2016 May;15(3):e28-32. doi: 10.1016/j.jcf.2016.02.003.
J Cyst Fibros. 2016.
PMID: 26948992
Free article.
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