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Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Invest Ophthalmol Vis Sci. 2012 Dec 13;53(13):8232-7. doi: 10.1167/iovs.12-11025.
Invest Ophthalmol Vis Sci. 2012.
PMID: 23150612
Free PMC article.
The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis.
Weleber RG, Michaelides M, Trzupek KM, Stover NB, Stone EM.
Weleber RG, et al. Among authors: stover nb.
Invest Ophthalmol Vis Sci. 2011 Jan 5;52(1):292-302. doi: 10.1167/iovs.10-6106.
Invest Ophthalmol Vis Sci. 2011.
PMID: 20811047
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Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1.
Pennesi ME, Stover NB, Stone EM, Chiang PW, Weleber RG.
Pennesi ME, et al. Among authors: stover nb.
Invest Ophthalmol Vis Sci. 2011 Oct 17;52(11):8166-73. doi: 10.1167/iovs.11-8298.
Invest Ophthalmol Vis Sci. 2011.
PMID: 21900377
Free PMC article.
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Retinal toxicity associated with hydroxychloroquine and chloroquine: risk factors, screening, and progression despite cessation of therapy.
Michaelides M, Stover NB, Francis PJ, Weleber RG.
Michaelides M, et al. Among authors: stover nb.
Arch Ophthalmol. 2011 Jan;129(1):30-9. doi: 10.1001/archophthalmol.2010.321.
Arch Ophthalmol. 2011.
PMID: 21220626
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Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group.
Otto EA, et al.
J Med Genet. 2011 Feb;48(2):105-16. doi: 10.1136/jmg.2010.082552. Epub 2010 Nov 10.
J Med Genet. 2011.
PMID: 21068128
Free PMC article.
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