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Page 1
A cookbook for DNase Hi-C.
Gridina M, Mozheiko E, Valeev E, Nazarenko LP, Lopatkina ME, Markova ZG, Yablonskaya MI, Voinova VY, Shilova NV, Lebedev IN, Fishman V. Gridina M, et al. Among authors: voinova vy. Epigenetics Chromatin. 2021 Mar 20;14(1):15. doi: 10.1186/s13072-021-00389-5. Epigenetics Chromatin. 2021. PMID: 33743768 Free PMC article.
Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome.
Sparber P, Filatova A, Anisimova I, Markova T, Voinova V, Chuhrova A, Tabakov V, Skoblov M. Sparber P, et al. Eur J Med Genet. 2020 Dec;63(12):104088. doi: 10.1016/j.ejmg.2020.104088. Epub 2020 Oct 15. Eur J Med Genet. 2020. PMID: 33069932
Ultrastructural Abnormalities in Induced Pluripotent Stem Cell-Derived Neural Stem Cells and Neurons of Two Cohen Syndrome Patients.
Shnaider TA, Khabarova AA, Morozova KN, Yunusova AM, Yakovleva SA, Chvileva AS, Wolf ER, Kiseleva EV, Grigor'eva EV, Voinova VY, Lagarkova MA, Pomerantseva EA, Musatova EV, Smirnov AV, Smirnova AV, Stoklitskaya DS, Arefieva TI, Larina DA, Nikitina TV, Pristyazhnyuk IE. Shnaider TA, et al. Among authors: voinova vy. Cells. 2023 Nov 25;12(23):2702. doi: 10.3390/cells12232702. Cells. 2023. PMID: 38067130 Free PMC article.
Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
Glotov OS, Savostyanov KV, Nagornova TS, Chernov AN, Fedyakov MA, Raspopova AN, Krasnoukhov KN, Danilov LG, Moiseeva NV, Kalinin RS, Tsai VV, Eismont YA, Voinova VY, Vitebskaya AV, Gurkina EY, Kuzenkova LM, Sosnina IB, Pushkov AA, Zhanin IS, Zakharova EY. Glotov OS, et al. Among authors: voinova vy. Int J Mol Sci. 2022 Oct 26;23(21):12976. doi: 10.3390/ijms232112976. Int J Mol Sci. 2022. PMID: 36361766 Free PMC article.
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
van der Knoop MM, Maroofian R, Fukata Y, van Ierland Y, Karimiani EG, Lehesjoki AE, Muona M, Paetau A, Miyazaki Y, Hirano Y, Selim L, de França M, Fock RA, Beetz C, Ruivenkamp CAL, Eaton AJ, Morneau-Jacob FD, Sagi-Dain L, Shemer-Meiri L, Peleg A, Haddad-Halloun J, Kamphuis DJ, Peeters-Scholte CMPCD, Kurul SH, Horvath R, Lochmüller H, Murphy D, Waldmüller S, Spranger S, Overberg D, Muir AM, Rad A, Vona B, Abdulwahad F, Maddirevula S, Povolotskaya IS, Voinova VY, Gowda VK, Srinivasan VM, Alkuraya FS, Mefford HC, Alfadhel M, Haack TB, Striano P, Severino M, Fukata M, Hilhorst-Hofstee Y, Houlden H. van der Knoop MM, et al. Among authors: voinova vy. Brain. 2022 Jul 29;145(7):2301-2312. doi: 10.1093/brain/awac116. Brain. 2022. PMID: 35373813 Free PMC article.
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Connaughton DM, Dai R, Owen DJ, Marquez J, Mann N, Graham-Paquin AL, Nakayama M, Coyaud E, Laurent EMN, St-Germain JR, Blok LS, Vino A, Klämbt V, Deutsch K, Wu CW, Kolvenbach CM, Kause F, Ottlewski I, Schneider R, Kitzler TM, Majmundar AJ, Buerger F, Onuchic-Whitford AC, Youying M, Kolb A, Salmanullah D, Chen E, van der Ven AT, Rao J, Ityel H, Seltzsam S, Rieke JM, Chen J, Vivante A, Hwang DY, Kohl S, Dworschak GC, Hermle T, Alders M, Bartolomaeus T, Bauer SB, Baum MA, Brilstra EH, Challman TD, Zyskind J, Costin CE, Dipple KM, Duijkers FA, Ferguson M, Fitzpatrick DR, Fick R, Glass IA, Hulick PJ, Kline AD, Krey I, Kumar S, Lu W, Marco EJ, Wentzensen IM, Mefford HC, Platzer K, Povolotskaya IS, Savatt JM, Shcherbakova NV, Senguttuvan P, Squire AE, Stein DR, Thiffault I, Voinova VY, Somers MJG, Ferguson MA, Traum AZ, Daouk GH, Daga A, Rodig NM, Terhal PA, van Binsbergen E, Eid LA, Tasic V, Rasouly HM, Lim TY, Ahram DF, Gharavi AG, Reutter HM, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Lifton RP, Xu H, Mane SM, Sanna-Cherchi S, Sharrocks AD, Raught B, Fisher SE, Bouchard M, Khokha MK, Shril S, Hildebrandt F. Connaughton DM, et al. Among authors: voinova vy. Am J Hum Genet. 2020 Oct 1;107(4):727-742. doi: 10.1016/j.ajhg.2020.08.013. Epub 2020 Sep 4. Am J Hum Genet. 2020. PMID: 32891193 Free PMC article.
Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I.
Giugliani R, Vieira TA, Carvalho CG, Muñoz-Rojas MV, Semyachkina AN, Voinova VY, Richards S, Cox GF, Xue Y. Giugliani R, et al. Among authors: voinova vy. Mol Genet Metab Rep. 2017 Jan 13;10:61-66. doi: 10.1016/j.ymgmr.2017.01.004. eCollection 2017 Mar. Mol Genet Metab Rep. 2017. PMID: 28119821 Free PMC article.
12 results