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Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 8915, doi. 10.3390/ijms24108915
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- Article
Comparison of CRT and LCD monitors for objective estimation of visual acuity using the sweep VEP.
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- Documenta Ophthalmologica, 2022, v. 145, n. 2, p. 133, doi. 10.1007/s10633-022-09883-x
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- Article
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10352, doi. 10.3390/ijms221910352
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- Article
Clinical Phenotype of PDE6B -Associated Retinitis Pigmentosa.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2374, doi. 10.3390/ijms22052374
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- Article
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.
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- 2020
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- journal article
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. 1514, doi. 10.1002/humu.24064
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- Article
Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled Trial.
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- 2020
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- journal article
Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.
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- Documenta Ophthalmologica, 2019, v. 139, n. 2, p. 151, doi. 10.1007/s10633-019-09704-8
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- Article
Objective assessment of visual acuity: a refined model for analyzing the sweep VEP.
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- Documenta Ophthalmologica, 2019, v. 138, n. 2, p. 97, doi. 10.1007/s10633-019-09672-z
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- Article
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.
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- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0205380
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- Article
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.
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- 2018
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- Publication type:
- journal article
Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions.
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- Genes, 2017, v. 8, n. 7, p. 170, doi. 10.3390/genes8070170
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- Article
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.
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- Scientific Reports, 2016, p. 28253, doi. 10.1038/srep28253
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- 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).
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- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0143846
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- Article
Achromatopsia: On the Doorstep of a Possible Therapy.
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- Ophthalmic Research, 2015, v. 54, n. 2, p. 103, doi. 10.1159/000435957
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- Article
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
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- Nature Genetics, 2015, v. 47, n. 7, p. 757, doi. 10.1038/ng.3319
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- Article
Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.
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- Acta Ophthalmologica (1755375X), 2015, v. 93, n. 4, p. e281, doi. 10.1111/aos.12573
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- Article
Ophthalmological assessment of cannabis-induced persisting perception disorder: Is there a direct retinal effect?
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- Documenta Ophthalmologica, 2015, v. 130, n. 2, p. 121, doi. 10.1007/s10633-015-9481-2
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- Article
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 1, p. 14, doi. 10.1002/mgg3.109
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- Article
Early postoperative changes of the foveal surface in epiretinal membranes: comparison of 23-gauge macular surgery with air vs. balanced salt solution.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2014, v. 252, n. 8, p. 1213, doi. 10.1007/s00417-014-2573-y
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- Article
Visual cortex organisation in a macaque monkey with macular degeneration.
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- European Journal of Neuroscience, 2013, v. 38, n. 10, p. 3456, doi. 10.1111/ejn.12349
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- Article
Detailed functional and structural characterization of a macular lesion in a rhesus macaque.
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- Documenta Ophthalmologica, 2012, v. 125, n. 3, p. 179, doi. 10.1007/s10633-012-9340-3
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- Article
Rod and Cone Function in Patients with KCNV2 Retinopathy.
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- PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0046762
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- Article
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
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- Human Mutation, 2011, v. 32, n. 12, p. 1398, doi. 10.1002/humu.21580
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- Article
Accommodation limits induced optical defocus in defocus experiments.
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- Documenta Ophthalmologica, 2010, v. 121, n. 2, p. 103, doi. 10.1007/s10633-010-9237-y
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- Article