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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
Characterizing the morbid genome of ciliopathies.
Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh MA, Alazami AM, Hashem M, Ibrahim N, Abdulwahab FM, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed MZ, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih MA; Ciliopathy WorkingGroup; Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan CV, Parry DA, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson CA, Alkuraya FS. Shaheen R, et al. Among authors: szymanska k. Genome Biol. 2016 Nov 28;17(1):242. doi: 10.1186/s13059-016-1099-5. Genome Biol. 2016. PMID: 27894351 Free PMC article.
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics; Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. Wheway G, et al. Among authors: szymanska k. Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13. Nat Cell Biol. 2015. PMID: 26167768 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.
Skin cancer in children after organ transplantation.
Imko-Walczuk B, Roskosz-Stożkowska M, Szymańska K, Kadylak D, Dębska-Ślizień A. Imko-Walczuk B, et al. Among authors: szymanska k. Postepy Dermatol Alergol. 2019 Dec;36(6):649-654. doi: 10.5114/ada.2019.82680. Epub 2019 Dec 30. Postepy Dermatol Alergol. 2019. PMID: 31997989 Free PMC article. Review.
Leloir Glycosyltransferases in Applied Biocatalysis: A Multidisciplinary Approach.
Mestrom L, Przypis M, Kowalczykiewicz D, Pollender A, Kumpf A, Marsden SR, Bento I, Jarzębski AB, Szymańska K, Chruściel A, Tischler D, Schoevaart R, Hanefeld U, Hagedoorn PL. Mestrom L, et al. Among authors: szymanska k. Int J Mol Sci. 2019 Oct 23;20(21):5263. doi: 10.3390/ijms20215263. Int J Mol Sci. 2019. PMID: 31652818 Free PMC article. Review.
TP53 and mutations in human cancer.
Szymańska K, Hainaut P. Szymańska K, et al. Acta Biochim Pol. 2003;50(1):231-8. Acta Biochim Pol. 2003. PMID: 12673364 Review.
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.
69 results