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Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.
Davidson AE, Cheong SS, Hysi PG, Venturini C, Plagnol V, Ruddle JB, Ali H, Carnt N, Gardner JC, Hassan H, Gade E, Kearns L, Jelsig AM, Restori M, Webb TR, Laws D, Cosgrove M, Hertz JM, Russell-Eggitt I, Pilz DT, Hammond CJ, Tuft SJ, Hardcastle AJ. Davidson AE, et al. Among authors: laws d. PLoS One. 2014 Aug 5;9(8):e104163. doi: 10.1371/journal.pone.0104163. eCollection 2014. PLoS One. 2014. PMID: 25093588 Free PMC article.
Ramos-Arroyo syndrome: confirmation of an entity.
Tooley MJ, Cosgrove M, Laws DE, Pilz DT. Tooley MJ, et al. Am J Med Genet A. 2011 Oct;155A(10):2556-9. doi: 10.1002/ajmg.a.34209. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910235
Evisceration for the management of ocular trauma.
McAlinden C, Saldanha M, Laws D. McAlinden C, et al. Among authors: laws d. BMJ Case Rep. 2013 Oct 30;2013:bcr2013201235. doi: 10.1136/bcr-2013-201235. BMJ Case Rep. 2013. PMID: 24172777 Free PMC article. Review.
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.
Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Ayuso C, Allen L, Collin JR, Ragge NK. Bakrania P, et al. Among authors: laws d. Br J Ophthalmol. 2007 Nov;91(11):1471-6. doi: 10.1136/bjo.2007.117929. Epub 2007 May 23. Br J Ophthalmol. 2007. PMID: 17522144 Free PMC article.
107 results