Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.


The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

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

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
2021 7
2022 6
2023 2
Text availability
Article attribute
Article type
Publication date

Search Results

91 results
Results by year
Filters applied: . Clear all
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.
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.
Paediatric solar urticaria: a case series.
Fityan A, McGibbon D, Fassihi H, Sarkany RS. Fityan A, et al. Among authors: sarkany rs. Br J Dermatol. 2018 Jun;178(6):1453-1454. doi: 10.1111/bjd.16325. Epub 2018 Apr 22. Br J Dermatol. 2018. PMID: 29315482 No abstract available.
91 results