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Year Number of Results
1985 1
1994 4
1995 1
1996 1
1998 4
1999 2
2001 1
2002 3
2004 1
2005 1
2006 1
2007 3
2008 4
2009 2
2010 3
2011 5
2012 9
2013 5
2014 4
2015 2
2016 5
2017 5
2018 9
2019 7
2020 4
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96 results

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Page 1
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque E, Izat… See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: sarkany r. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
Protoporphyria.
Cox TM, Alexander GJ, Sarkany RP. Cox TM, et al. Among authors: sarkany rp. Semin Liver Dis. 1998;18(1):85-93. doi: 10.1055/s-2007-1007144. Semin Liver Dis. 1998. PMID: 9516682 Review.
A 'spot' diagnosis.
Sebaratnam DF, Sarkany RPE, Fassihi H. Sebaratnam DF, et al. Among authors: sarkany rpe. Arch Dis Child Educ Pract Ed. 2017 Aug;102(4):220-221. doi: 10.1136/archdischild-2016-310555. Epub 2016 Apr 26. Arch Dis Child Educ Pract Ed. 2017. PMID: 27117973 No abstract available.
Making sense of the porphyrias.
Sarkany RP. Sarkany RP. Photodermatol Photoimmunol Photomed. 2008 Apr;24(2):102-8. doi: 10.1111/j.1600-0781.2008.00336.x. Photodermatol Photoimmunol Photomed. 2008. PMID: 18353093 Review.
Porphyria for the general physician.
Peters TJ, Sarkany R. Peters TJ, et al. Among authors: sarkany r. Clin Med (Lond). 2005 May-Jun;5(3):275-81. doi: 10.7861/clinmedicine.5-3-275. Clin Med (Lond). 2005. PMID: 16011221 Free PMC article. Review. No abstract available.
Photoaggravated Sweet's syndrome.
Natkunarajah J, Gordon K, Chow J, Sarkany R, Millington GW, Marsden RA. Natkunarajah J, et al. Among authors: sarkany r. Clin Exp Dermatol. 2010 Apr;35(3):e18-9. doi: 10.1111/j.1365-2230.2009.03329.x. Clin Exp Dermatol. 2010. PMID: 20500161 No abstract available.
96 results