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JAMA Ophthalmology|March 2, 2018
Congenital Retinal Macrovessel and the Association of Retinal Venous Malformations With Venous Malformations of the BrainFrancesco Pichi, K Bailey Freund, Antonio Ciardella, et al.American Journal of Human Genetics|March 10, 2009
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosaHui Wang, Anneke I den Hollander, Yalda Moayedi, et al.The British Journal of Ophthalmology|September 28, 2018
Cilioretinal artery hypoperfusion and its association with paracentral acute middle maculopathyFrancesco Pichi, Serena Fragiotta, K Bailey Freund, et al.Human Genetics|January 31, 2016
Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trialNicola G Ghazi, Emad B Abboud, Sawsan R Nowilaty, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 11, 2015
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophiesNisha Patel, Mohammed A Aldahmesh, Hisham Alkuraya, et al.Cell|August 7, 2012
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingMoumita Chaki, Rannar Airik, Amiya K Ghosh, et al.Pageof 7