文章名稱引用次數(shù)

• Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options16
• Gene therapy for RPE65-related retinal disease16
• Gene therapy in inherited retinal degenerative diseases, a review11
• A new perspective on the genetics of keratoconus: why have we not been more successful?8
• Optical Coherence Tomography Angiography (OCT-A) in young choroideremia (CHM) patients6
• Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients6
• Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation6
• Identification of PITX3 mutations in individuals with various ocular developmental defects5
• CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family5
• Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa5