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Showing results for ryzhkova o
Search for Druzhkova O instead (3 results)
Pleiotropic effects of MORC2 derive from its epigenetic signature.
Peymani F, Ebihara T, Smirnov D, Kopajtich R, Ando M, Bertini E, Carrozzo R, Diodato D, Distelmaier F, Fang F, Ghezzi D, Hempel M, Iwanicka-Pronicka K, Klopstock T, Stenton SL, Lamperti C, Liu Z, Murtazina A, Okamoto Y, Okazaki Y, Piekutowska-Abramczuk D, Rötig A, Ryzhkova O, Schlein C, Shagina O, Takashima H, Tsygankova PG, Zech M, Meitinger T, Shimura M, Murayama K, Prokisch H. Peymani F, et al. Among authors: ryzhkova o. Brain. 2025 Apr 30:awaf159. doi: 10.1093/brain/awaf159. Online ahead of print. Brain. 2025. PMID: 40302207
[Autosomal dominant spastic paraplegias].
Rudenskaya GE, Kadnikova VA, Bessonova LA, Sparber PA, Kurbatov SA, Mironovich OL, Konovalov FA, Ryzhkova OP. Rudenskaya GE, et al. Among authors: ryzhkova op. Zh Nevrol Psikhiatr Im S S Korsakova. 2021;121(5):75-87. doi: 10.17116/jnevro202112105175. Zh Nevrol Psikhiatr Im S S Korsakova. 2021. PMID: 34184482 Russian.
[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: ryzhkova op. 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.
Sanger validation of WGS variants.
Kopernik A, Sayganova M, Zobkova G, Doroschuk N, Smirnova A, Molodtsova-Zolotukhina D, Sagaydak O, Ryzhkova O, Kutsev S, Groznova O, Melikyan L, Bondarchuk E, Woroncow M, Albert E, Bogdanov V, Volchkov P. Kopernik A, et al. Among authors: ryzhkova o. Sci Rep. 2025 Jan 29;15(1):3621. doi: 10.1038/s41598-025-87814-x. Sci Rep. 2025. PMID: 39881150 Free PMC article.
[Common forms of hereditary spastic paraplegias].
Rudenskaya GE, Kadnikova VA, Ryzhkova OP. Rudenskaya GE, et al. Among authors: ryzhkova op. Zh Nevrol Psikhiatr Im S S Korsakova. 2019;119(2):94-104. doi: 10.17116/jnevro201911902194. Zh Nevrol Psikhiatr Im S S Korsakova. 2019. PMID: 30874534 Russian.
A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC.
Marakhonov A, Serebryakova E, Mukhina A, Vechkasova A, Prokhorov N, Efimova I, Balinova N, Lobenskaya A, Vasilyeva T, Zabnenkova V, Ryzhkova O, Rodina Y, Pershin D, Soloveva N, Fomenko A, Saydaeva D, Ibisheva A, Irbaieva T, Koroteev A, Zinchenko R, Voronin S, Shcherbina A, Kutsev S. Marakhonov A, et al. Among authors: ryzhkova o. Int J Mol Sci. 2024 Oct 9;25(19):10844. doi: 10.3390/ijms251910844. Int J Mol Sci. 2024. PMID: 39409174 Free PMC article.
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.
Levchenko O, Dadali E, Bessonova L, Demina N, Rudenskaya G, Matyushchenko G, Markova T, Anisimova I, Semenova N, Shchagina O, Ryzhkova O, Zinchenko R, Galkina V, Voinova V, Nagieva S, Lavrov A. Levchenko O, et al. Among authors: ryzhkova o. Int J Mol Sci. 2022 Jul 14;23(14):7764. doi: 10.3390/ijms23147764. Int J Mol Sci. 2022. PMID: 35887114 Free PMC article.
Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants.
Gridina M, Lagunov T, Belokopytova P, Torgunakov N, Nuriddinov M, Nurislamov A, Nazarenko LP, Kashevarova AA, Lopatkina ME, Vasilyev S, Zuev A, Belyaeva EO, Salyukova OA, Cheremnykh AD, Sukhanova NN, Minzhenkova ME, Markova ZG, Demina NA, Stepanchuk Y, Khabarova A, Yan A, Valeev E, Koksharova G, Grigor'eva EV, Kokh N, Lukjanova T, Maximova Y, Musatova E, Shabanova E, Kechin A, Khrapov E, Boyarskih U, Ryzhkova O, Suntsova M, Matrosova A, Karoli M, Manakhov A, Filipenko M, Rogaev E, Shilova NV, Lebedev IN, Fishman V. Gridina M, et al. Among authors: ryzhkova o. Genome Med. 2025 May 7;17(1):47. doi: 10.1186/s13073-025-01471-3. Genome Med. 2025. PMID: 40336115 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
71 results