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

Year Number of Results
1981 1
1984 1
1990 1
1992 1
1993 2
1994 1
1995 1
1996 2
1997 5
1998 3
1999 3
2000 4
2001 2
2002 5
2003 6
2004 5
2005 5
2006 8
2007 5
2008 8
2009 4
2010 8
2011 6
2012 9
2013 11
2014 10
2015 15
2016 12
2017 11
2018 11
2019 9
2020 7
2021 13
2022 5
2024 0

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175 results

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Page 1
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Guidelines on the diagnosis and management of thrombotic thrombocytopenic purpura and other thrombotic microangiopathies.
Scully M, Hunt BJ, Benjamin S, Liesner R, Rose P, Peyvandi F, Cheung B, Machin SJ; British Committee for Standards in Haematology. Scully M, et al. Among authors: liesner r. Br J Haematol. 2012 Aug;158(3):323-35. doi: 10.1111/j.1365-2141.2012.09167.x. Epub 2012 May 25. Br J Haematol. 2012. PMID: 22624596 Free article. No abstract available.
A multicenter, open-label phase 3 study of emicizumab prophylaxis in children with hemophilia A with inhibitors.
Young G, Liesner R, Chang T, Sidonio R, Oldenburg J, Jiménez-Yuste V, Mahlangu J, Kruse-Jarres R, Wang M, Uguen M, Doral MY, Wright LY, Schmitt C, Levy GG, Shima M, Mancuso ME. Young G, et al. Among authors: liesner r. Blood. 2019 Dec 12;134(24):2127-2138. doi: 10.1182/blood.2019001869. Blood. 2019. PMID: 31697801 Free PMC article. Clinical Trial.
Characterization and treatment of congenital thrombotic thrombocytopenic purpura.
Alwan F, Vendramin C, Liesner R, Clark A, Lester W, Dutt T, Thomas W, Gooding R, Biss T, Watson HG, Cooper N, Rayment R, Cranfield T, van Veen JJ, Hill QA, Davis S, Motwani J, Bhatnagar N, Priddee N, David M, Crowley MP, Alamelu J, Lyall H, Westwood JP, Thomas M, Scully M. Alwan F, et al. Among authors: liesner r. Blood. 2019 Apr 11;133(15):1644-1651. doi: 10.1182/blood-2018-11-884700. Epub 2019 Feb 15. Blood. 2019. PMID: 30770395 Free article. Review.
Guideline on the management of haemophilia in the fetus and neonate.
Chalmers E, Williams M, Brennand J, Liesner R, Collins P, Richards M; Paediatric Working Party of United Kingdom Haemophilia Doctors' Organization. Chalmers E, et al. Among authors: liesner r. Br J Haematol. 2011 Jul;154(2):208-15. doi: 10.1111/j.1365-2141.2010.08545.x. Epub 2011 May 9. Br J Haematol. 2011. PMID: 21554256 Free article. Review.
Modern management of severe platelet function disorders.
Alamelu J, Liesner R. Alamelu J, et al. Among authors: liesner r. Br J Haematol. 2010 Jun;149(6):813-23. doi: 10.1111/j.1365-2141.2010.08191.x. Epub 2010 Apr 29. Br J Haematol. 2010. PMID: 20456364 Free article. Review.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
175 results