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Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1331, doi. 10.3390/ijms21041331
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- Article
Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1308
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- Publication type:
- Article
Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 694, doi. 10.1002/ajmg.c.31838
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- Article
Clinical and genetic characteristics of 10 Japanese patients with PROM1‐associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 656, doi. 10.1002/ajmg.c.31826
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- Publication type:
- Article
Progress of macular atrophy during 30 months' follow-up in a patient with spinocerebellar ataxia type1 (SCA1).
- Published in:
- Documenta Ophthalmologica, 2021, v. 142, n. 1, p. 87, doi. 10.1007/s10633-020-09782-z
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- Publication type:
- Article
Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration.
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- Documenta Ophthalmologica, 2019, v. 139, n. 3, p. 171, doi. 10.1007/s10633-019-09705-7
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- Article
Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia.
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- Documenta Ophthalmologica, 2017, v. 134, n. 2, p. 141, doi. 10.1007/s10633-017-9577-y
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- Publication type:
- Article
Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.
- Published in:
- Documenta Ophthalmologica, 2015, v. 131, n. 1, p. 71, doi. 10.1007/s10633-015-9497-7
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- Publication type:
- Article
Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy.
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- Documenta Ophthalmologica, 2015, v. 130, n. 1, p. 49, doi. 10.1007/s10633-014-9464-8
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- Publication type:
- Article
Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation.
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- Documenta Ophthalmologica, 2014, v. 128, n. 3, p. 219, doi. 10.1007/s10633-014-9436-z
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- Publication type:
- Article
High-Resolution Retinal Imaging Reveals Preserved Cone Photoreceptor Density and Choroidal Thickness in Female Carriers of Choroideremia.
- Published in:
- 2019
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- Publication type:
- journal article
Fundus Autofluorescence Imaging in a Patient With the Juvenile Form of Galactosialidosis.
- Published in:
- Ophthalmic Surgery, Lasers & Imaging Retina, 2014, v. 45, n. 3, p. 259, doi. 10.3928/23258160-20140425-01
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- Publication type:
- Article
Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa.
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0108721
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- Publication type:
- Article
Outer Retinal Morphology and Visual Function in Patients With Idiopathic Epiretinal Membrane.
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- JAMA Ophthalmology, 2013, v. 131, n. 2, p. 172, doi. 10.1001/jamaophthalmol.2013.686
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- Publication type:
- Article
Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques.
- Published in:
- Journal of Ophthalmology, 2019, p. 1, doi. 10.1155/2019/1691064
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- Publication type:
- Article
Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.
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- Molecular Vision, 2019, v. 25, p. 559
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- Publication type:
- Article
A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00178-2
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- Publication type:
- Article
Correction to: Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0065-7
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- Publication type:
- Article
Recovery of Vision following Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II, Hunter Syndrome.
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- Case Reports in Ophthalmology, 2019, v. 10, n. 2, p. 186, doi. 10.1159/000500804
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- Publication type:
- Article
Clinical course of focal choroidal excavation in Vogt-Koyanagi-Harada disease.
- Published in:
- Clinical Ophthalmology, 2014, v. 8, p. 2461, doi. 10.2147/OPTH.S75558
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- Publication type:
- Article
Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration.
- Published in:
- 2013
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- Publication type:
- Case Study
Pattern-reversal visual-evoked potential in patients with occult macular dystrophy.
- Published in:
- Clinical Ophthalmology, 2010, v. 4, p. 1515, doi. 10.2147/OPTH.S15088
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- Publication type:
- Article
Stargardt Disease with Preserved Central Vision: identification of a putative novel mutation in ATP-binding cassette transporter gene.
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- Acta Ophthalmologica (1755375X), 2011, v. 89, n. 3, p. e297, doi. 10.1111/j.1755-3768.2009.01848.x
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- Publication type:
- Article
The Efficacy of Transcorneal Electrical Stimulation for the Treatment of Primary Open-angle Glaucoma: A Pilot Study.
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- Keio Journal of Medicine, 2018, v. 67, n. 3, p. 45, doi. 10.2302/kjm.2017-0015-OA
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- Publication type:
- Article
Complex objects are represented in macaque inferotemporal cortex by the combination of feature columns.
- Published in:
- Nature Neuroscience, 2001, v. 4, n. 8, p. 832, doi. 10.1038/90547
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- Publication type:
- Article
Evaluation of cone function by a handheld non-mydriatic flicker electroretinogram device.
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- Clinical Ophthalmology, 2016, v. 10, p. 1175, doi. 10.2147/OPTH.S104721
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- Publication type:
- Article
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing.
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- Human Mutation, 2022, v. 43, n. 12, p. 2251, doi. 10.1002/humu.24492
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- Publication type:
- Article
Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5.
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- Genes, 2023, v. 14, n. 10, p. 1869, doi. 10.3390/genes14101869
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- Publication type:
- Article
Functional Characteristics of Diverse PAX6 Mutations Associated with Isolated Foveal Hypoplasia.
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- Genes, 2023, v. 14, n. 7, p. 1483, doi. 10.3390/genes14071483
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- Publication type:
- Article
Genetic and Phenotypic Landscape of PRPH2 -Associated Retinal Dystrophy in Japan.
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- Genes, 2021, v. 12, n. 11, p. 1817, doi. 10.3390/genes12111817
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- Publication type:
- Article
Transcorneal electrical stimulation of retina to treat longstanding retinal artery occlusion.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2007, v. 245, n. 12, p. 1773
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- Publication type:
- Article
Nationwide epidemiologic survey on incidence of macular dystrophy in Japan.
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- Japanese Journal of Ophthalmology, 2024, v. 68, n. 3, p. 167, doi. 10.1007/s10384-024-01060-8
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- Publication type:
- Article
Acute unilateral inner retinal dysfunction with photophobia: importance of electrodiagnosis.
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- Japanese Journal of Ophthalmology, 2021, v. 65, n. 1, p. 42, doi. 10.1007/s10384-020-00780-x
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- Publication type:
- Article
Three cases of acute-onset bilateral photophobia.
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- Japanese Journal of Ophthalmology, 2019, v. 63, n. 2, p. 172, doi. 10.1007/s10384-018-00649-0
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- Article
Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy.
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- Japanese Journal of Ophthalmology, 2017, v. 61, n. 5, p. 395, doi. 10.1007/s10384-017-0522-0
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- Article
In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant.
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- Japanese Journal of Ophthalmology, 2017, v. 61, n. 1, p. 92, doi. 10.1007/s10384-016-0484-7
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- Publication type:
- Article
New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.
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- Japanese Journal of Ophthalmology, 2016, v. 60, n. 6, p. 476, doi. 10.1007/s10384-016-0470-0
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- Publication type:
- Article
Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.
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- Japanese Journal of Ophthalmology, 2016, v. 60, n. 3, p. 187, doi. 10.1007/s10384-016-0424-6
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- Publication type:
- Article
Occult macular dystrophy.
- Published in:
- Japanese Journal of Ophthalmology, 2015, v. 59, n. 2, p. 71, doi. 10.1007/s10384-015-0371-7
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- Publication type:
- Article
Novel snapshot imaging of photoreceptor bleaching in macaque and human retinas.
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- Japanese Journal of Ophthalmology, 2010, v. 54, n. 4, p. 349, doi. 10.1007/s10384-010-0826-9
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- Publication type:
- Article
Origins of retinal intrinsic signals: A series of experiments on retinas of macaque monkeys.
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- Japanese Journal of Ophthalmology, 2009, v. 53, n. 4, p. 297, doi. 10.1007/s10384-009-0686-3
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- Publication type:
- Article
JJO special issue: Functional imaging of the retina.
- Published in:
- Japanese Journal of Ophthalmology, 2009, v. 53, n. 4, p. 295, doi. 10.1007/s10384-009-0690-7
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- Publication type:
- Article
Advanced quantitative analysis of the sub-retinal pigment epithelial space in recurrent neovascular age-related macular degeneration.
- Published in:
- PLoS ONE, 2017, v. 12, n. 11, p. 1, doi. 10.1371/journal.pone.0186955
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- Publication type:
- Article