publication venue for
- A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome. 2014
- Clinical sequencing of the retinitis pigmentosa gene RPGR in over 1,000 cases of vision loss.. 30. 2024
- Protective effect of magnesium acetyltaurate and taurine against NMDA-induced retinal damage involves reduced nitrosative stress.. 24. 2018
- Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.. 22. 2016
- Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci.. 20. 2014
- An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9.. 16. 2010
- Müller cell activation, proliferation and migration following laser injury.. 15. 2009
- Ocular clusterin expression in von Hippel-Lindau disease.. 13. 2007