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

Year Number of Results
2002 1
2003 1
2004 3
2005 2
2006 4
2007 4
2008 3
2009 1
2010 4
2011 3
2012 5
2013 4
2014 3
2015 4
2016 7
2017 10
2018 10
2019 10
2020 6
2021 8
2022 4
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85 results
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Page 1
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.
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.
Antibody-induced procoagulant platelets in severe COVID-19 infection.
Althaus K, Marini I, Zlamal J, Pelzl L, Singh A, Häberle H, Mehrländer M, Hammer S, Schulze H, Bitzer M, Malek N, Rath D, Bösmüller H, Nieswandt B, Gawaz M, Bakchoul T, Rosenberger P. Althaus K, et al. Among authors: schulze h. Blood. 2021 Feb 25;137(8):1061-1071. doi: 10.1182/blood.2020008762. Blood. 2021. PMID: 33512415 Free PMC article.
Imaging platelet biogenesis in vivo.
Schulze H, Stegner D. Schulze H, et al. Res Pract Thromb Haemost. 2018 Jun 10;2(3):461-468. doi: 10.1002/rth2.12112. eCollection 2018 Jul. Res Pract Thromb Haemost. 2018. PMID: 30046750 Free PMC 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.
HLA Matching in Pediatric Stem Cell Transplantation.
Eyrich M, Schulze H. Eyrich M, et al. Among authors: schulze h. Transfus Med Hemother. 2019 Oct;46(5):348-355. doi: 10.1159/000502422. Epub 2019 Aug 28. Transfus Med Hemother. 2019. PMID: 31832060 Free PMC article. Review.
RhoA/Cdc42 signaling drives cytoplasmic maturation but not endomitosis in megakaryocytes.
Heib T, Hermanns HM, Manukjan G, Englert M, Kusch C, Becker IC, Gerber A, Wackerbarth LM, Burkard P, Dandekar T, Balkenhol J, Jahn D, Beck S, Meub M, Dütting S, Stigloher C, Sauer M, Cherpokova D, Schulze H, Brakebusch C, Nieswandt B, Nagy Z, Pleines I. Heib T, et al. Among authors: schulze h. Cell Rep. 2021 May 11;35(6):109102. doi: 10.1016/j.celrep.2021.109102. Cell Rep. 2021. PMID: 33979620 Free article.
85 results