Results 201 to 210 of about 9,513 (213)

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

Nature Genetics, 2012
Isabelle Perrault, Sylvain Hanein, Sylvie GERBER   +2 more
exaly  

Leber Congenital Amaurosis

2008
openaire   +1 more source

Leber's Congenital Amaurosis and RPE65

International Ophthalmology Clinics, 2001
openaire   +2 more sources

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

Human Mutation, 2004
Sylvain Hanein, Isabelle Perrault, Sylvie GERBER   +2 more
exaly  

Safety and efficacy of ATSN-101 in patients with Leber congenital amaurosis caused by biallelic mutations in GUCY2D: a phase 1/2, multicentre, open-label, unilateral dose escalation study

Lancet, The
Vivian Wu, Shannon E Boye, Sanford L Boye   +2 more
exaly  

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Nature Genetics, 2012
Xia Wang, Jacek Majewski, Yumei Li
exaly  

An overview of leber congenital amaurosis: a model to understand human retinal development

Survey of Ophthalmology, 2004
exaly  

Leber Congenital Amaurosis

openaire   +1 more source

Amaurosis Congenita (Leber congenital amaurosis, LCA)

2008
openaire   +1 more source

[Leber's congenital amaurosis].

Revista de chirurgie, oncologie, radiologie, o. r. l., oftalmologie, stomatologie. Seria: Oftalmologie, 1986
openaire   +1 more source