Found: 20
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Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations.
- Published in:
- 2018
- By:
- Publication type:
- journal article
A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants.
- Published in:
- Ophthalmic Genetics, 2023, v. 44, n. 5, p. 480, doi. 10.1080/13816810.2022.2141788
- By:
- Publication type:
- Article
A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation.
- Published in:
- Ophthalmic Genetics, 2020, v. 41, n. 2, p. 175, doi. 10.1080/13816810.2020.1744019
- By:
- Publication type:
- Article
Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.
- Published in:
- Japanese Journal of Ophthalmology, 2018, v. 62, n. 4, p. 458, doi. 10.1007/s10384-018-0591-8
- By:
- Publication type:
- Article
Long-term clinical course of 2 Japanese patients with <italic>PRPF31</italic>-related retinitis pigmentosa.
- Published in:
- Japanese Journal of Ophthalmology, 2018, v. 62, n. 2, p. 186, doi. 10.1007/s10384-017-0560-7
- By:
- Publication type:
- Article
Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis.
- Published in:
- Journal of Ophthalmology, 2015, v. 2015, p. 1, doi. 10.1155/2015/693468
- By:
- Publication type:
- Article
Regional differences in genes and variants causing retinitis pigmentosa in Japan.
- Published in:
- Japanese Journal of Ophthalmology, 2021, v. 65, n. 3, p. 338, doi. 10.1007/s10384-021-00824-w
- By:
- Publication type:
- Article
Usefulness of handheld electroretinogram system for diagnosing blue-cone monochromatism in children.
- Published in:
- Japanese Journal of Ophthalmology, 2021, v. 65, n. 1, p. 23, doi. 10.1007/s10384-020-00782-9
- 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
Long‐term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1500, doi. 10.1002/ajmg.a.61575
- By:
- Publication type:
- Article
Nisin-induced expression of recombinant T cell epitopes of major Japanese cedar pollen allergens in Lactococcus lactis.
- Published in:
- Applied Microbiology & Biotechnology, 2018, v. 102, n. 1, p. 261, doi. 10.1007/s00253-017-8579-8
- By:
- Publication type:
- Article
Retinal structure in Leber's congenital amaurosis caused by RPGRIP1 mutations.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0064-8
- By:
- Publication type:
- Article
A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0048-8
- By:
- Publication type:
- Article
Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3 -Congenital Disorders of Glycosylation and RP1 -Related Retinitis Pigmentosa.
- Published in:
- Genes, 2022, v. 13, n. 2, p. 359, doi. 10.3390/genes13020359
- By:
- Publication type:
- Article
Novel biallelic splice-site BBS1 variants in Bardet–Biedle syndrome: a case report of the first Japanese patient.
- Published in:
- Documenta Ophthalmologica, 2020, v. 141, n. 1, p. 77, doi. 10.1007/s10633-020-09752-5
- By:
- Publication type:
- Article
Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.
- Published in:
- Documenta Ophthalmologica, 2020, v. 140, n. 2, p. 147, doi. 10.1007/s10633-019-09727-1
- By:
- Publication type:
- Article
Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.
- Published in:
- Documenta Ophthalmologica, 2018, v. 137, n. 1, p. 47, doi. 10.1007/s10633-018-9649-7
- By:
- Publication type:
- Article
The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1 -Related Retinal Dystrophy in Japanese Patients.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 13678, doi. 10.3390/ijms241813678
- By:
- Publication type:
- Article
X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 6, p. 1518, doi. 10.3390/ijms20061518
- By:
- Publication type:
- Article
Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.
- Published in:
- Molecular Vision, 2018, v. 24, p. 286
- By:
- Publication type:
- Article