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Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series.
Murtazina A, Borovikov A, Marakhonov A, Sharkov A, Sharkova I, Mirzoyan A, Kulikova S, Ganieva R, Zabnenkova V, Ryzhkova O, Nikitin S, Dadali E, Kutsev S. Murtazina A, et al. Among authors: ryzhkova o. Front Pediatr. 2024 Jan 18;12:1280394. doi: 10.3389/fped.2024.1280394. eCollection 2024. Front Pediatr. 2024. PMID: 38304750 Free PMC article.
Genetic and Clinical Spectrum of GNE Myopathy in Russia.
Murtazina A, Nikitin S, Rudenskaya G, Sharkova I, Borovikov A, Sparber P, Shchagina O, Chukhrova A, Ryzhkova O, Shatokhina O, Orlova A, Udalova V, Kanivets I, Korostelev S, Polyakov A, Dadali E, Kutsev S. Murtazina A, et al. Among authors: ryzhkova o. Genes (Basel). 2022 Oct 31;13(11):1991. doi: 10.3390/genes13111991. Genes (Basel). 2022. PMID: 36360228 Free PMC article.
Specificities of the DMD Gene Mutation Spectrum in Russian Patients.
Zinina E, Bulakh M, Chukhrova A, Ryzhkova O, Sparber P, Shchagina O, Polyakov A, Kutsev S. Zinina E, et al. Among authors: ryzhkova o. Int J Mol Sci. 2022 Oct 22;23(21):12710. doi: 10.3390/ijms232112710. Int J Mol Sci. 2022. PMID: 36361501 Free PMC article.
Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3.
Murtazina A, Borovikov A, Kuchina A, Ovsova O, Bulakh M, Chukhrova A, Braslavskaya S, Ryzhkova O, Skryabin N, Kutsev S, Dadali E. Murtazina A, et al. Among authors: ryzhkova o. Int J Mol Sci. 2023 Dec 21;25(1):129. doi: 10.3390/ijms25010129. Int J Mol Sci. 2023. PMID: 38203298 Free PMC article.
Spectrum of Mutations in PTPN11 in Russian Cohort.
Orlova A, Guseva D, Demina N, Polyakov A, Ryzhkova O. Orlova A, et al. Among authors: ryzhkova o. Genes (Basel). 2024 Mar 7;15(3):345. doi: 10.3390/genes15030345. Genes (Basel). 2024. PMID: 38540404 Free PMC article.
Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases.
Shchagina O, Fedotov V, Markova T, Shatokhina O, Ryzhkova O, Fedotova T, Polyakov A. Shchagina O, et al. Among authors: ryzhkova o. Int J Mol Sci. 2022 Aug 24;23(17):9576. doi: 10.3390/ijms23179576. Int J Mol Sci. 2022. PMID: 36076978 Free PMC article.
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
Marakhonov AV, Efimova IY, Mukhina AA, Zinchenko RA, Balinova NV, Rodina Y, Pershin D, Ryzhkova OP, Orlova AA, Zabnenkova VV, Cherevatova TB, Beskorovainaya TS, Shchagina OA, Polyakov AV, Markova ZG, Minzhenkova ME, Shilova NV, Larin SS, Khadzhieva MB, Dudina ES, Kalinina EV, Mudaeva DA, Saydaeva DH, Matulevich SA, Belyashova EY, Yakubovskiy GI, Tebieva IS, Gabisova YV, Irinina NA, Nurgalieva LR, Saifullina EV, Belyaeva TI, Romanova OS, Voronin SV, Shcherbina A, Kutsev SI. Marakhonov AV, et al. Among authors: ryzhkova op. J Clin Immunol. 2024 Apr 5;44(4):93. doi: 10.1007/s10875-024-01691-z. J Clin Immunol. 2024. PMID: 38578360
The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.
Kovalskaia VA, Kungurtseva AL, Bostanova FM, Vasiliev PA, Tabakov VY, Orlova MD, Povolotskaya IS, Novoselova OG, Bikanov RA, Akhyamova MA, Tikhonovich YV, Popovich AV, Vitebskaya AV, Dadali EL, Ryzhkova OP. Kovalskaia VA, et al. Among authors: ryzhkova op. Genes (Basel). 2024 Jan 29;15(2):180. doi: 10.3390/genes15020180. Genes (Basel). 2024. PMID: 38397171 Free PMC article.
46 results