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Year Number of Results
2009 1
2010 2
2013 1
2014 1
2015 1
2016 1
2018 7
2019 5
2020 9
2021 9
2022 6
2023 13
2024 2

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53 results

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Page 1
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. J Clin Immunol. 2024 Apr 5;44(4):93. doi: 10.1007/s10875-024-01691-z. J Clin Immunol. 2024. PMID: 38578360
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: marakhonov a. Front Pediatr. 2024 Jan 18;12:1280394. doi: 10.3389/fped.2024.1280394. eCollection 2024. Front Pediatr. 2024. PMID: 38304750 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. Int J Mol Sci. 2023 Nov 29;24(23):16923. doi: 10.3390/ijms242316923. Int J Mol Sci. 2023. PMID: 38069245 Free PMC article.
Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study.
Vasilyeva TA, Marakhonov AV, Voskresenskaya AA, Kadyshev VV, Sukhanova NV, Minzhenkova ME, Shilova NV, Latyshova AA, Ginter EK, Kutsev SI, Zinchenko RA. Vasilyeva TA, et al. Among authors: marakhonov av. Genes (Basel). 2023 Nov 4;14(11):2041. doi: 10.3390/genes14112041. Genes (Basel). 2023. PMID: 38002984 Free PMC article.
Clinical and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel.
Kondratyeva E, Melyanovskaya Y, Efremova A, Krasnova M, Mokrousova D, Bulatenko N, Petrova N, Polyakov A, Adyan T, Kovalskaia V, Bukharova T, Marakhonov A, Zinchenko R, Zhekaite E, Buhonin A, Goldshtein D. Kondratyeva E, et al. Among authors: marakhonov a. Genes (Basel). 2023 Aug 28;14(9):1705. doi: 10.3390/genes14091705. Genes (Basel). 2023. PMID: 37761847 Free PMC article.
53 results