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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2004 2
2005 2
2009 5
2010 3
2011 4
2012 9
2013 5
2014 5
2015 4
2016 3
2017 3
2018 7
2019 10
2020 6
2021 4
2022 5
2023 2
2024 2

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69 results

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Page 1
PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects.
Atkinson R, Georgiou M, Yang C, Szymanska K, Lahat A, Vasconcelos EJR, Ji Y, Moya Molina M, Collin J, Queen R, Dorgau B, Watson A, Kurzawa-Akanbi M, Laws R, Saxena A, Shyan Beh C, Siachisumo C, Goertler F, Karwatka M, Davey T, Inglehearn CF, McKibbin M, Lührmann R, Steel DH, Elliott DJ, Armstrong L, Urlaub H, Ali RR, Grellscheid SN, Johnson CA, Mozaffari-Jovin S, Lako M. Atkinson R, et al. Among authors: szymanska k. Nat Commun. 2024 Apr 11;15(1):3138. doi: 10.1038/s41467-024-47253-0. Nat Commun. 2024. PMID: 38605034 Free PMC article.
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Best S, Lord J, Roche M, Watson CM, Poulter JA, Bevers RPJ, Stuckey A, Szymanska K, Ellingford JM, Carmichael J, Brittain H, Toomes C, Inglehearn C, Johnson CA, Wheway G; Genomics England Research Consortium. Best S, et al. Among authors: szymanska k. J Med Genet. 2022 Aug;59(8):737-747. doi: 10.1136/jmedgenet-2021-108065. Epub 2021 Oct 29. J Med Genet. 2022. PMID: 34716235 Free PMC article.
The Multifaceted Regulation of SnRK2 Kinases.
Maszkowska J, Szymańska KP, Kasztelan A, Krzywińska E, Sztatelman O, Dobrowolska G. Maszkowska J, et al. Among authors: szymanska kp. Cells. 2021 Aug 24;10(9):2180. doi: 10.3390/cells10092180. Cells. 2021. PMID: 34571829 Free PMC article. Review.
69 results