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Year Number of Results
1855 1
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2002 3
2004 1
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2007 5
2008 12
2009 7
2010 7
2011 6
2012 9
2013 9
2014 10
2015 8
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2017 18
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2020 15
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2023 14
2024 12

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176 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: quinton 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.
Response.
Griffin G, Hewison M, Hopkin J, Kenny RA, Quinton R, Rhodes J, Subramanian S, Thickett D. Griffin G, et al. Among authors: quinton r. Clin Med (Lond). 2021 Jan;21(1):e120. doi: 10.7861/clinmed.Let.21.1.8. Clin Med (Lond). 2021. PMID: 33479101 Free PMC article. No abstract available.
Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.
Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J. Boehm U, et al. Among authors: quinton r. Nat Rev Endocrinol. 2015 Sep;11(9):547-64. doi: 10.1038/nrendo.2015.112. Epub 2015 Jul 21. Nat Rev Endocrinol. 2015. PMID: 26194704 Review.
Editorial: New Aspects in Hypogonadism.
Dwyer AA, Quinton R. Dwyer AA, et al. Among authors: quinton r. Front Endocrinol (Lausanne). 2020 Jun 30;11:426. doi: 10.3389/fendo.2020.00426. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 32695070 Free PMC article. No abstract available.
To the Editor.
Swee DS, Quinton R. Swee DS, et al. Among authors: quinton r. Menopause. 2020 Nov 16;28(2):225-226. doi: 10.1097/GME.0000000000001689. Menopause. 2020. PMID: 33201028 No abstract available.
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N. Miraoui H, et al. Among authors: quinton r. Am J Hum Genet. 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008. Am J Hum Genet. 2013. PMID: 23643382 Free PMC article.
Therapeutic effects of androgens for cachexia.
Giovanelli L, Quinton R. Giovanelli L, et al. Among authors: quinton r. Best Pract Res Clin Endocrinol Metab. 2022 Sep;36(5):101598. doi: 10.1016/j.beem.2021.101598. Epub 2021 Nov 10. Best Pract Res Clin Endocrinol Metab. 2022. PMID: 34801415 Review.
Vitamin D and COVID-19-Revisited.
Subramanian S, Griffin G, Hewison M, Hopkin J, Kenny RA, Laird E, Quinton R, Thickett D, Rhodes JM. Subramanian S, et al. Among authors: quinton r. J Intern Med. 2022 Oct;292(4):604-626. doi: 10.1111/joim.13536. Epub 2022 Jul 15. J Intern Med. 2022. PMID: 35798564 Free PMC article. Review.
176 results