共 45 条
[1]
Finger RP(2011)Prevalence and causes of registered blindness in the largest federal state of Germany Br J Ophthalmol 95 1061-1067
[2]
Fimmers R(2018)Imaging and molecular genetic diagnostics for the characterization of retinal dystrophies Ophthalmologe 115 1021-1027
[3]
Holz FG(2001)Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies Hum Mutat 17 42-51
[4]
Scholl HP(2018)Despite Challenges and Pitfalls: How Ophthalmology Benefits from the Use of Next-Generation Sequencing Klin Monbl Augenheilkd 235 258-263
[5]
Birtel J(2019)Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials Ophthalmology 126 1273-1285
[6]
Gliem M(2017)Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial Lancet 390(10097 849-860
[7]
Holz FG(2018)Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa PLoS ONE 13 e0207958-186
[8]
Herrmann P(2018)Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy Sci Rep 8 4824-undefined
[9]
Sohocki MM(2018)Non-syndromic retinitis pigmentosa Prog Retin Eye Res 66 157-undefined
[10]
Daiger SP(undefined)undefined undefined undefined undefined-undefined