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Nephronophthisis.
Simms RJ, Eley L, Sayer JA. Simms RJ, et al. Eur J Hum Genet. 2009 Apr;17(4):406-16. doi: 10.1038/ejhg.2008.238. Epub 2008 Dec 10. Eur J Hum Genet. 2009. PMID: 19066617 Free PMC article.
Nephronophthisis: a genetically diverse ciliopathy.
Simms RJ, Hynes AM, Eley L, Sayer JA. Simms RJ, et al. Int J Nephrol. 2011;2011:527137. doi: 10.4061/2011/527137. Epub 2011 May 15. Int J Nephrol. 2011. PMID: 21660307 Free PMC article.
A meckelin-filamin A interaction mediates ciliogenesis.
Adams M, Simms RJ, Abdelhamed Z, Dawe HR, Szymanska K, Logan CV, Wheway G, Pitt E, Gull K, Knowles MA, Blair E, Cross SH, Sayer JA, Johnson CA. Adams M, et al. Among authors: simms rj. Hum Mol Genet. 2012 Mar 15;21(6):1272-86. doi: 10.1093/hmg/ddr557. Epub 2011 Nov 25. Hum Mol Genet. 2012. PMID: 22121117 Free PMC article.
Functional modelling of a novel mutation in BBS5.
Al-Hamed MH, van Lennep C, Hynes AM, Chrystal P, Eley L, Al-Fadhly F, El Sayed R, Simms RJ, Meyer B, Sayer JA. Al-Hamed MH, et al. Among authors: simms rj. Cilia. 2014 Feb 21;3(1):3. doi: 10.1186/2046-2530-3-3. Cilia. 2014. PMID: 24559376 Free PMC article.
220 results