Found: 73
Select item for more details and to access through your institution.
A new PDE6A missense variant p.Arg544Gln in rod–cone dystrophy.
- Published in:
- Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 107, doi. 10.1007/s10633-021-09826-y
- By:
- Publication type:
- Article
Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration.
- Published in:
- Documenta Ophthalmologica, 2019, v. 139, n. 3, p. 171, doi. 10.1007/s10633-019-09705-7
- By:
- Publication type:
- Article
Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses.
- Published in:
- Documenta Ophthalmologica, 2019, v. 138, n. 3, p. 229, doi. 10.1007/s10633-019-09679-6
- By:
- 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
- By:
- Publication type:
- Article
Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy.
- Published in:
- Documenta Ophthalmologica, 2015, v. 130, n. 1, p. 49, doi. 10.1007/s10633-014-9464-8
- By:
- Publication type:
- Article
Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1308
- By:
- Publication type:
- Article
Development of a time-series shotgun metagenomics database for monitoring microbial communities at the Pacific coast of Japan.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-91615-3
- By:
- Publication type:
- Article
Estimation of tuna population by the improved analytical pipeline of unique molecular identifier-assisted HaCeD-Seq (haplotype count from eDNA).
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-86190-6
- By:
- Publication type:
- Article
Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review.
- Published in:
- Ophthalmic Genetics, 2022, v. 43, n. 3, p. 400, doi. 10.1080/13816810.2021.2023195
- By:
- Publication type:
- Article
Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel <italic>PRPH2</italic> variant (p.Cys250Gly).
- Published in:
- Ophthalmic Genetics, 2018, v. 39, n. 3, p. 357, doi. 10.1080/13816810.2018.1459737
- By:
- Publication type:
- Article
RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis.
- Published in:
- Ophthalmic Genetics, 2016, v. 37, n. 2, p. 161, doi. 10.3109/13816810.2014.991931
- By:
- Publication type:
- Article
Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
- Published in:
- Ophthalmic Genetics, 2016, v. 37, n. 1, p. 68, doi. 10.3109/13816810.2014.949380
- By:
- Publication type:
- Article
Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).
- Published in:
- Ophthalmic Genetics, 2015, v. 36, n. 2, p. 137, doi. 10.3109/13816810.2014.991932
- By:
- Publication type:
- Article
Author Correction: Identification of a dual orange/far-red and blue light photoreceptor from an oceanic green picoplankton.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
Identification of a dual orange/far-red and blue light photoreceptor from an oceanic green picoplankton.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23741-5
- By:
- Publication type:
- Article
Transcriptomic Insight into the Melon Morphology of Toothed Whales for Aquatic Molecular Developments.
- Published in:
- Sustainability (2071-1050), 2021, v. 13, n. 24, p. 13997, doi. 10.3390/su132413997
- By:
- Publication type:
- Article
A Review of Discovery Profiling of PIWI-Interacting RNAs and Their Diverse Functions in Metazoans.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 20, p. 11166, doi. 10.3390/ijms222011166
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
Gene expression profiles at different stages for formation of pearl sac and pearl in the pearl oyster Pinctada fucata.
- Published in:
- BMC Genomics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12864-019-5579-3
- By:
- Publication type:
- Article
In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant.
- Published in:
- Japanese Journal of Ophthalmology, 2017, v. 61, n. 1, p. 92, doi. 10.1007/s10384-016-0484-7
- By:
- Publication type:
- Article
CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability.
- Published in:
- Scientific Reports, 2016, p. 33742, doi. 10.1038/srep33742
- By:
- Publication type:
- 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.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 656, doi. 10.1002/ajmg.c.31826
- By:
- Publication type:
- Article
RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa.
- Published in:
- Journal of Ophthalmology, 2014, p. 1, doi. 10.1155/2014/210947
- By:
- Publication type:
- Article
Maser: one-stop platform for NGS big data from analysis to visualization.
- Published in:
- Database: The Journal of Biological Databases & Curation, 2018, v. 2018, p. 1, doi. 10.1093/database/bay027
- By:
- Publication type:
- Article
Transcriptional landscape of small non-coding RNAs reveals diversity of categories and functions in molluscs.
- Published in:
- RNA Biology, 2024, v. 21, n. 1, p. 530, doi. 10.1080/15476286.2024.2348893
- By:
- Publication type:
- Article
Discovery and functional understanding of MiRNAs in molluscs: a genome-wide profiling approach.
- Published in:
- RNA Biology, 2021, v. 18, n. 11, p. 1702, doi. 10.1080/15476286.2020.1867798
- By:
- Publication type:
- Article
Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-72623-1
- By:
- Publication type:
- Article
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65737-z
- By:
- Publication type:
- Article
Creation of a novel telomere-cutting endonuclease based on the EN domain of telomere-specific non-long terminal repeat retrotransposon, TRAS1.
- Published in:
- Mobile DNA, 2010, v. 1, n. 1, p. 1, doi. 10.1186/1759-8753-1-13
- By:
- Publication type:
- Article
Collaborative environmental DNA sampling from petal surfaces of flowering cherry Cerasus × yedoensis ‘Somei-yoshino’ across the Japanese archipelago.
- Published in:
- Journal of Plant Research, 2018, v. 131, n. 4, p. 709, doi. 10.1007/s10265-018-1017-x
- By:
- Publication type:
- Article
Construction of a chromosome-level Japanese stickleback species genome using ultra-dense linkage analysis with single-cell sperm sequencing.
- Published in:
- NAR Genomics & Bioinformatics, 2022, v. 4, n. 2, p. 1, doi. 10.1093/nargab/lqac026
- By:
- 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
- By:
- Publication type:
- Article
Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation.
- Published in:
- Documenta Ophthalmologica, 2014, v. 128, n. 3, p. 219, doi. 10.1007/s10633-014-9436-z
- By:
- Publication type:
- Article
Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.
- Published in:
- Documenta Ophthalmologica, 2014, v. 128, n. 3, p. 211, doi. 10.1007/s10633-014-9435-0
- By:
- Publication type:
- Article
Pilot study of a comprehensive resource estimation method from environmental DNA using universal D-loop amplification primers.
- Published in:
- Functional & Integrative Genomics, 2023, v. 23, n. 2, p. 1, doi. 10.1007/s10142-023-01013-3
- By:
- Publication type:
- Article
Draft genome sequencing and assembly of Risso's dolphin, Grampus griseus.
- Published in:
- Journal of Genomics, 2023, v. 11, p. 9, doi. 10.7150/jgen.78761
- By:
- Publication type:
- Article
Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 3, p. 444, doi. 10.1093/hmg/ddz311
- By:
- Publication type:
- Article
The Scaly-foot Snail genome and implications for the origins of biomineralised armour.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-15522-3
- By:
- Publication type:
- Article
Epidermal distribution of tetrodotoxin-rich cells in newly hatched larvae of Takifugu spp.
- Published in:
- Marine Biotechnology, 2024, v. 26, n. 6, p. 1367, doi. 10.1007/s10126-024-10377-x
- By:
- Publication type:
- Article
Metagenomic Insights Reveal Unrecognized Diversity of Entotheonella in Japanese Theonella Sponges.
- Published in:
- Marine Biotechnology, 2024, v. 26, n. 5, p. 1009, doi. 10.1007/s10126-024-10350-8
- By:
- Publication type:
- Article
Tissue Localization of Tetrodotoxin in the Flatworm Planocera multitentaculata (Platyhelminthes: Polycladida).
- Published in:
- Marine Biotechnology, 2024, v. 26, n. 4, p. 649, doi. 10.1007/s10126-024-10332-w
- By:
- Publication type:
- Article
Japanese Planocerid Flatworms: Difference in Composition of Tetrodotoxin and Its Analogs and the Effects of Ingestion by Toxin-Bearing Fishes in the Ryukyu Islands, Japan.
- Published in:
- Marine Biotechnology, 2024, v. 26, n. 3, p. 500, doi. 10.1007/s10126-024-10312-0
- By:
- Publication type:
- Article
Age-Associated Different Transcriptome Profiling in Zebrafish and Rats: an Insight into the Diversity of Vertebrate Aging.
- Published in:
- Marine Biotechnology, 2022, v. 24, n. 5, p. 895, doi. 10.1007/s10126-022-10153-9
- By:
- Publication type:
- Article
HaCeD-Seq: a Novel Method for Reliable and Easy Estimation About the Fish Population Using Haplotype Count from eDNA.
- Published in:
- Marine Biotechnology, 2019, v. 21, n. 6, p. 813, doi. 10.1007/s10126-019-09926-6
- By:
- Publication type:
- Article
Genotype-Phenotype Correlations in RP1 -Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 11, p. 2265, doi. 10.3390/jcm10112265
- By:
- Publication type:
- Article
A Preliminary Metagenome Analysis Based on a Combination of Protein Domains.
- Published in:
- Proteomes, 2019, v. 7, n. 2, p. 19, doi. 10.3390/proteomes7020019
- By:
- Publication type:
- Article
Induction of endoplasmic reticulum stress markers in an acromegaly model.
- Published in:
- Journal of Cellular Biochemistry, 2022, v. 123, n. 9, p. 1411, doi. 10.1002/jcb.30301
- By:
- Publication type:
- Article
Piwi-interacting RNA (piRNA) expression patterns in pearl oyster (Pinctada fucata) somatic tissues.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-36726-0
- By:
- Publication type:
- Article