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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: vasilyeva ta. 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.
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: vasilyeva ta. 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.
Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.
Bobreshova AM, Ionova SA, Kadyshev VV, Sukhanova NV, Viakhireva IV, Filatova AY, Zhurkova NV, Sparber PA, Marakhonov AV, Vasilyeva TA, Shchagina OA, Kutsev SI, Zinchenko RA. Bobreshova AM, et al. Among authors: vasilyeva ta. Int J Mol Sci. 2024 Oct 19;25(20):11260. doi: 10.3390/ijms252011260. Int J Mol Sci. 2024. PMID: 39457042 Free PMC article.
Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome.
Marakhonov AV, Vasilyeva TA, Minzhenkova ME, Sukhanova NV, Sparber PA, Andreeva NA, Teleshova MV, Baybagisova FK, Shilova NV, Kutsev SI, Zinchenko RA. Marakhonov AV, et al. Among authors: vasilyeva ta. Int J Mol Sci. 2023 Nov 29;24(23):16923. doi: 10.3390/ijms242316923. Int J Mol Sci. 2023. PMID: 38069245 Free PMC article.
30 results