Pages that link to "Q1811132"
Jump to navigation
Jump to search
The following pages link to Leber congenital amaurosis (Q1811132):
Displaying 50 items.
- Jean-Baptiste-Siméon Chardin (Q207447) (← links)
- Kelvin Tan (Q6386746) (← links)
- Akbar Khan (Q14867563) (← links)
- Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis (Q21144697) (← links)
- Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis (Q22010998) (← links)
- Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice (Q24304229) (← links)
- Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene (Q24531671) (← links)
- Null RPGRIP1 alleles in patients with Leber congenital amaurosis (Q24533477) (← links)
- Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis (Q24533664) (← links)
- A novel locus for Leber congenital amaurosis maps to chromosome 6q (Q24534329) (← links)
- AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase (Q24564587) (← links)
- NMNAT1 mutations cause Leber congenital amaurosis (Q24594444) (← links)
- Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial (Q24608049) (← links)
- Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration (Q24624430) (← links)
- Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year (Q24634801) (← links)
- Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis (Q24642869) (← links)
- Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations (Q24649177) (← links)
- Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis (Q24678616) (← links)
- Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis (Q24685618) (← links)
- Pharmacological and rAAV gene therapy rescue of visual functions in a blind mouse model of Leber congenital amaurosis. (Q24811718) (← links)
- Concise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye Disease (Q26774786) (← links)
- Targeted ablation of CRB1 and CRB2 in retinal progenitor cells mimics Leber congenital amaurosis (Q27318809) (← links)
- Leber congenital amaurosis 15 (Q27674860) (← links)
- Leber congenital amaurosis 9 (Q27677581) (← links)
- Leber congenital amaurosis 2 (Q27677590) (← links)
- Leber congenital amaurosis 1 (Q27677616) (← links)
- Leber congenital amaurosis 8 (Q27677617) (← links)
- Leber congenital amaurosis 12 (Q27677618) (← links)
- Leber congenital amaurosis 16 (Q27677637) (← links)
- Leber congenital amaurosis 14 (Q27677651) (← links)
- Leber congenital amaurosis 5 (Q27677679) (← links)
- Leber congenital amaurosis 11 (Q27677680) (← links)
- Leber congenital amaurosis 17 (Q27677681) (← links)
- Leber congenital amaurosis 10 (Q27677710) (← links)
- Leber congenital amaurosis 6 (Q27677729) (← links)
- Leber congenital amaurosis 13 (Q27677730) (← links)
- Leber congenital amaurosis 3 (Q27677732) (← links)
- Leber congenital amaurosis 4 (Q27677733) (← links)
- Leber congenital amaurosis 7 (Q27677734) (← links)
- Mutation analysis of 3 genes in patients with Leber congenital amaurosis (Q28141825) (← links)
- Mutations in the CRB1 gene cause Leber congenital amaurosis (Q28202971) (← links)
- Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene (Q28205349) (← links)
- A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis (Q28207498) (← links)
- Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis (Q28207589) (← links)
- Visual improvement in Leber congenital amaurosis and the CRX genotype (Q28209493) (← links)
- Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis (Q28210441) (← links)
- Novel frameshift mutations in CRX associated with Leber congenital amaurosis (Q28211986) (← links)
- Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis (Q28220214) (← links)
- CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis (Q28243356) (← links)
- Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis (Q28250847) (← links)