Found: 73
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The complete mitochondrial genome of Spurilla braziliana MacFarland 1909 (Nudibranchia, Aeolidiidae).
- Published in:
- Mitochondrial DNA: Resources, 2023, v. 8, n. 8, p. 862, doi. 10.1080/23802359.2023.2241693
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- Publication type:
- Article
Another polymorphic mitochondrial genome of Grampus griseus and phylogeny of family Delphinidae.
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- Mitochondrial DNA: Resources, 2021, v. 6, n. 9, p. 2569, doi. 10.1080/23802359.2021.1959453
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- Publication type:
- Article
Characterization and phylogenetic position of two sympatric sister species of toxic flatworms Planocera multitentaculata and Planocera reticulata (Platyhelminthes: Acotylea).
- Published in:
- Mitochondrial DNA: Resources, 2020, v. 5, n. 3, p. 2352, doi. 10.1080/23802359.2020.1730255
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- Publication type:
- Article
Transcriptional landscape of small non-coding RNAs reveals diversity of categories and functions in molluscs.
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- RNA Biology, 2024, v. 21, n. 1, p. 530, doi. 10.1080/15476286.2024.2348893
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- Publication type:
- Article
Discovery and functional understanding of MiRNAs in molluscs: a genome-wide profiling approach.
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- RNA Biology, 2021, v. 18, n. 11, p. 1702, doi. 10.1080/15476286.2020.1867798
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- 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
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- Publication type:
- Article
Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy.
- Published in:
- 2020
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- 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
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- Publication type:
- Article
RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis.
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- Ophthalmic Genetics, 2016, v. 37, n. 2, p. 161, doi. 10.3109/13816810.2014.991931
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- 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
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- 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
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- Publication type:
- Article
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 2251, doi. 10.1002/humu.24492
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- 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
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- Publication type:
- Article
Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-35152-6
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- Publication type:
- Article
Artificially designed hybrids facilitate efficient generation of high-resolution linkage maps.
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- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-34431-6
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- 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
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- Publication type:
- Article
Construction of a chromosome-level Japanese stickleback species genome using ultra-dense linkage analysis with single-cell sperm sequencing.
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- NAR Genomics & Bioinformatics, 2022, v. 4, n. 2, p. 1, doi. 10.1093/nargab/lqac026
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- Publication type:
- 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
Author Correction: Identification of a dual orange/far-red and blue light photoreceptor from an oceanic green picoplankton.
- Published in:
- 2021
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- 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
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- Publication type:
- Article
RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa.
- Published in:
- 2014
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- 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
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- 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
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- 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
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- 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
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- 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
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- Publication type:
- Article
Identification and Characterization of microRNAs and Their Predicted Functions in Biomineralization in the Pearl Oyster (Pinctada fucata).
- Published in:
- Biology (2079-7737), 2019, v. 8, n. 2, p. 47, doi. 10.3390/biology8020047
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- Publication type:
- Article
Transcriptome Analysis of Yamame (Oncorhynchus masou) in Normal Conditions after Heat Stress.
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- Biology (2079-7737), 2019, v. 8, n. 2, p. 21, doi. 10.3390/biology8020021
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- Publication type:
- Article
Lactomycins A-C, Dephosphorylated Phoslactomycin Derivatives That Inhibit Cathepsin B, from the Marine-Derived Streptomyces sp. ACT232.
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- Marine Drugs, 2018, v. 16, n. 2, p. 70, doi. 10.3390/md16020070
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- Publication type:
- Article
Collaborative environmental DNA sampling from petal surfaces of flowering cherry Cerasus × yedoensis ‘Somei-yoshino’ across the Japanese archipelago.
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- Journal of Plant Research, 2018, v. 131, n. 4, p. 709, doi. 10.1007/s10265-018-1017-x
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- 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
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- Publication type:
- Article
Chromosome-Scale Genome Assembly and Transcriptome Assembly of Kawakawa Euthynnus affinis ; A Tuna-Like Species.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.739781
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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
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
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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.
- Published in:
- Documenta Ophthalmologica, 2014, v. 128, n. 3, p. 219, doi. 10.1007/s10633-014-9436-z
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- 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
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- Publication type:
- Article
Soil Bacterial Community Composition in Cryptomeria japonica Plantation at Different Times after Clear-Cutting.
- Published in:
- Forests (19994907), 2021, v. 12, n. 6, p. 754, doi. 10.3390/f12060754
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- Publication type:
- 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
CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability.
- Published in:
- Scientific Reports, 2016, p. 33742, doi. 10.1038/srep33742
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- 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
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- 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
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- 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
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- Publication type:
- Article
Telomere-to-telomere genome assembly of matsutake (Tricholoma matsutake).
- Published in:
- DNA Research, 2023, v. 30, n. 3, p. 1, doi. 10.1093/dnares/dsad006
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- 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
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- 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
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- 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
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- Publication type:
- Article
Performance comparison of second- and third-generation sequencers using a bacterial genome with two chromosomes.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 699, doi. 10.1186/1471-2164-15-699
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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
- By:
- 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
Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-018-0034-6
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- Publication type:
- Article