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2008 | 1 |
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2014 | 2 |
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Page 1
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2.
J Med Genet. 2018.
PMID: 29097605
Free PMC article.
Review.
Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias.
Timmerman V, Clowes VE, Reid E.
Timmerman V, et al. Among authors: clowes ve.
Exp Neurol. 2013 Aug;246:14-25. doi: 10.1016/j.expneurol.2012.01.010. Epub 2012 Jan 18.
Exp Neurol. 2013.
PMID: 22285450
Review.
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Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5.
Edwards TL, Clowes VE, Tsang HT, Connell JW, Sanderson CM, Luzio JP, Reid E.
Edwards TL, et al. Among authors: clowes ve.
Biochem J. 2009 Sep 14;423(1):31-9. doi: 10.1042/BJ20082398.
Biochem J. 2009.
PMID: 19580544
Free PMC article.
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Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study.
Bancroft EK, Page EC, Castro E, Lilja H, Vickers A, Sjoberg D, Assel M, Foster CS, Mitchell G, Drew K, Mæhle L, Axcrona K, Evans DG, Bulman B, Eccles D, McBride D, van Asperen C, Vasen H, Kiemeney LA, Ringelberg J, Cybulski C, Wokolorczyk D, Selkirk C, Hulick PJ, Bojesen A, Skytte AB, Lam J, Taylor L, Oldenburg R, Cremers R, Verhaegh G, van Zelst-Stams WA, Oosterwijk JC, Blanco I, Salinas M, Cook J, Rosario DJ, Buys S, Conner T, Ausems MG, Ong KR, Hoffman J, Domchek S, Powers J, Teixeira MR, Maia S, Foulkes WD, Taherian N, Ruijs M, Helderman-van den Enden AT, Izatt L, Davidson R, Adank MA, Walker L, Schmutzler R, Tucker K, Kirk J, Hodgson S, Harris M, Douglas F, Lindeman GJ, Zgajnar J, Tischkowitz M, Clowes VE, Susman R, Ramón y Cajal T, Patcher N, Gadea N, Spigelman A, van Os T, Liljegren A, Side L, Brewer C, Brady AF, Donaldson A, Stefansdottir V, Friedman E, Chen-Shtoyerman R, Amor DJ, Copakova L, Barwell J, Giri VN, Murthy V, Nicolai N, Teo SH, Greenhalgh L, Strom S, Henderson A, McGrath J, Gallagher D, Aaronson N, Ardern-Jones A, Bangma C, Dearnaley D, Costello P, Eyfjord J, Rothwell J, Falconer A, Gronberg H, Hamdy FC, Johannsson O, Khoo V, Kote-Jarai Z, Lubinski J, A…
See abstract for full author list ➔
Bancroft EK, et al. Among authors: clowes ve.
Eur Urol. 2014 Sep;66(3):489-99. doi: 10.1016/j.eururo.2014.01.003. Epub 2014 Jan 15.
Eur Urol. 2014.
PMID: 24484606
Free PMC article.
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Loeys-Dietz syndrome: life threatening aortic dissection diagnosed on routine family screening.
Martin CA, Clowes VE, Cooper JP.
Martin CA, et al. Among authors: clowes ve.
BMJ Case Rep. 2014 Feb 4;2014:bcr2013203063. doi: 10.1136/bcr-2013-203063.
BMJ Case Rep. 2014.
PMID: 24495977
Free PMC article.
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MEN2 screening dilemmas in a family with a novel RET mutation in the MEN2 susceptibility region of the gene, a family history of Hirschsprung disease, and no family history of MEN2-related tumours.
Clowes VE, Shaw-Smith C, Simpson H, Ball SG, Acerini CL.
Clowes VE, et al.
Clin Endocrinol (Oxf). 2008 Apr;68(4):666-7. doi: 10.1111/j.1365-2265.2007.03056.x. Epub 2007 Sep 18.
Clin Endocrinol (Oxf). 2008.
PMID: 17877758
No abstract available.
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