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Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.647400
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- Article
Near-field is nearly here.
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- Journal of Telecommunications Management, 2008, v. 1, n. 1, p. 55
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- Article
Adeno-Associated Viral Gene Therapy for Inherited Retinal Disease.
- Published in:
- Pharmaceutical Research, 2019, v. 36, n. 2, p. 1, doi. 10.1007/s11095-018-2564-5
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- Article
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.
- Published in:
- Nature Genetics, 2000, v. 26, n. 3, p. 319, doi. 10.1038/81619
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- Article
Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis.
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- Nature Genetics, 2000, v. 25, n. 1, p. 67, doi. 10.1038/75621
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- Article
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.
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- Nature Genetics, 2000, v. 24, n. 1, p. 79, doi. 10.1038/71732
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- Article
Worldwide Argus II implantation: recommendations to optimize patient outcomes.
- Published in:
- 2016
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- Publication type:
- journal article
Photoresponses of human rods in vivo derived from paired-flash electroretinograms.
- Published in:
- Visual Neuroscience, 1997, v. 14, n. 1, p. 73, doi. 10.1017/S0952523800008774
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- Article
Human cone receptor activity: The leading edge of the a–wave and models of receptor activity.
- Published in:
- Visual Neuroscience, 1993, v. 10, n. 5, p. 857, doi. 10.1017/S0952523800006076
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- Publication type:
- Article
A computational model of the amplitude and implicit time of the b-wave of the human ERG.
- Published in:
- Visual Neuroscience, 1992, v. 8, n. 2, p. 107, doi. 10.1017/S0952523800009275
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- Publication type:
- Article
A quantitative measure of the electrical activity of human rod photoreceptors using electroretinography.
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- Visual Neuroscience, 1990, v. 5, n. 4, p. 379, doi. 10.1017/S0952523800000468
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- Article
Retinal Sensitivity Using Microperimetry in Age-Related Macular Degeneration in an Amish Population.
- Published in:
- 2019
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- Publication type:
- journal article
Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT).
- Published in:
- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0143846
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- Publication type:
- Article
Allelic Heterogeneity and Genetic Modifier Loci Contribute to Clinical Variation in Males with X-Linked Retinitis Pigmentosa Due to RPGR Mutations.
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- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023021
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- Publication type:
- Article
Impact of early dietary intake and blood lipid composition of long-chain polyunsaturated fatty acids on later visual development.
- Published in:
- 2000
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- Publication type:
- journal article
The Very Large G-Protein-Coupled Receptor VLGR1: A Component of the Ankle Link Complex Required for the Normal Development of Auditory Hair Bundles.
- Published in:
- 2006
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- Publication type:
- Abstract
RNA-based therapies in inherited retinal diseases.
- Published in:
- Therapeutic Advances in Ophthalmology, 2022, v. 14, p. 1, doi. 10.1177/25158414221134602
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- Publication type:
- Article
RNA-based therapies in inherited retinal diseases.
- Published in:
- Therapeutic Advances in Ophthalmology, 2022, p. 1, doi. 10.1177/25158414221134602
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- Publication type:
- Article
Longitudinal Microperimetric Changes of Macular Sensitivity in Stargardt Disease After 12 Months: ProgStar Report No. 13.
- Published in:
- 2020
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- Publication type:
- journal article
Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 12-Month Period: ProgStar Report No. 11.
- Published in:
- JAMA Ophthalmology, 2019, v. 137, n. 10, p. 1134, doi. 10.1001/jamaophthalmol.2019.2885
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- Publication type:
- Article
Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 12-Month Period: ProgStar Report No. 11.
- Published in:
- 2019
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- Publication type:
- journal article
Effect of Oral Valproic Acid vs Placebo for Vision Loss in Patients With Autosomal Dominant Retinitis Pigmentosa: A Randomized Phase 2 Multicenter Placebo-Controlled Clinical Trial.
- Published in:
- 2018
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- Publication type:
- journal article
Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9).
- Published in:
- 2017
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- Publication type:
- journal article
Macular Sensitivity Measured With Microperimetry in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 7.
- Published in:
- 2017
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- Publication type:
- journal article
Quantification of Ellipsoid Zone Changes in Retinitis Pigmentosa Using en Face Spectral Domain-Optical Coherence Tomography.
- Published in:
- 2016
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- Publication type:
- journal article
Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.
- Published in:
- 2015
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- Publication type:
- journal article
Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.
- Published in:
- JAMA Ophthalmology, 2015, v. 133, n. 5, p. 511, doi. 10.1001/jamaophthalmol.2014.6115
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- Publication type:
- Article
Four-year placebo-controlled trial of docosahexaenoic acid in X-linked retinitis pigmentosa (DHAX trial): a randomized clinical trial.
- Published in:
- 2014
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- Publication type:
- journal article
Four-Year Placebo-Controlled Trial of Docosahexaenoic Acid in X-Linked Retinitis Pigmentosa (DHAX Trial).
- Published in:
- JAMA Ophthalmology, 2014, v. 132, n. 7, p. 866, doi. 10.1001/jamaophthalmol.2014.1634
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- Publication type:
- Article
Spectral-Domain Optical Coherence Tomography Measures of Outer Segment Layer Progression in Patients With X-Linked Retinitis Pigmentosa.
- Published in:
- JAMA Ophthalmology, 2013, v. 131, n. 9, p. 1143, doi. 10.1001/jamaophthalmol.2013.4160
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- Publication type:
- Article
A randomized controlled trial of early dietary supply of long-chain polyunsaturated fatty acids and mental development in term infants.
- Published in:
- 2000
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- Publication type:
- journal article
North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene.
- Published in:
- Molecular Vision, 2016, v. 22, p. 1
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- Publication type:
- Article
Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease (SMART) Study: Design and Baseline Characteristics (Report No. 1).
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- Ophthalmic Research, 2019, v. 61, n. 1, p. 36, doi. 10.1159/000488711
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- Article
Unexpected Etiology in a Case of Bilateral Maculopathy.
- Published in:
- Case Reports in Ophthalmology, 2021, v. 12, n. 2, p. 622, doi. 10.1159/000514705
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- Publication type:
- Article
QR‐421a RNA therapy in retinitis pigmentosa due to mutations in USH2A: Stellar trial Phase[AP1] 1b/2 interim results.
- Published in:
- 2022
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- Publication type:
- Abstract
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
- Published in:
- PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0145951
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- Article
Who will make money? Tokens and the '5Cs' of future currency.
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- Journal of Payments Strategy & Systems, 2018, v. 12, n. 2, p. 111, doi. 10.69554/odmk9746
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- Publication type:
- Article
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.
- Published in:
- Human Mutation, 2017, v. 38, n. 11, p. 1521, doi. 10.1002/humu.23294
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- Article
Single-base substitutions in the CHM promoter as a cause of choroideremia.
- Published in:
- Human Mutation, 2017, v. 38, n. 6, p. 704, doi. 10.1002/humu.23212
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- Publication type:
- Article
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 11, p. 2121, doi. 10.1093/hmg/8.11.2121
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- Article
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
- Published in:
- Human Mutation, 2001, v. 17, n. 1, p. 42, doi. 10.1002/1098-1004(2001)17:1<42::AID-HUMU5>3.0.CO;2-K
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- Publication type:
- Article
A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa.
- Published in:
- Human Mutation, 1993, v. 2, n. 3, p. 205, doi. 10.1002/humu.1380020309
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- Publication type:
- Article
ApoER2 Function in the Establishment and Maintenance of Retinal Synaptic Connectivity.
- Published in:
- Journal of Neuroscience, 2011, v. 31, n. 40, p. 14413, doi. 10.1523/JNEUROSCI.3135-11.2011
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- Publication type:
- Article