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Year | Number of Results |
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2019 | 2 |
2020 | 2 |
2021 | 2 |
2024 | 0 |
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Page 1
Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN.
J Clin Med. 2021 May 24;10(11):2265. doi: 10.3390/jcm10112265.
J Clin Med. 2021.
PMID: 34073704
Free PMC article.
Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation.
Oishi N, Kubota D, Nakamoto K, Takeda Y, Hayashi M, Gocho K, Yamaki K, Igarashi T, Takahashi H, Kameya S.
Oishi N, et al.
Ophthalmic Genet. 2021 Jun;42(3):304-311. doi: 10.1080/13816810.2021.1881978. Epub 2021 Feb 5.
Ophthalmic Genet. 2021.
PMID: 33541179
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High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutation.
Kubota D, Matsumoto K, Hayashi M, Oishi N, Gocho K, Yamaki K, Kobayakawa S, Igarashi T, Takahashi H, Kameya S.
Kubota D, et al. Among authors: oishi n.
Ophthalmic Genet. 2020 Dec;41(6):629-638. doi: 10.1080/13816810.2020.1810284. Epub 2020 Aug 20.
Ophthalmic Genet. 2020.
PMID: 32814480
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Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis.
Kondo H, Oku K, Katagiri S, Hayashi T, Nakano T, Iwata A, Kuniyoshi K, Kusaka S, Hiyoshi A, Uchio E, Kondo M, Oishi N, Kameya S, Mizota A, Naoi N, Ueno S, Terasaki H, Morimoto T, Iwaki M, Yoshitake K, Iejima D, Fujinami K, Tsunoda K, Shinoda K, Iwata T.
Kondo H, et al. Among authors: oishi n.
Hum Genome Var. 2019 Jan 8;6:3. doi: 10.1038/s41439-018-0034-6. eCollection 2019.
Hum Genome Var. 2019.
PMID: 30652005
Free PMC article.
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Novel GUCY2D Variant (E843Q) at Mutation Hotspot Associated with Macular Dystrophy in a Japanese Patient.
Takeda Y, Kubota D, Oishi N, Maruyama K, Gocho K, Yamaki K, Igarashi T, Takahashi H, Kameya S.
Takeda Y, et al. Among authors: oishi n.
J Nippon Med Sch. 2020 May 15;87(2):92-99. doi: 10.1272/jnms.JNMS.2020_87-207. Epub 2020 Jan 31.
J Nippon Med Sch. 2020.
PMID: 32009068
Free article.
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Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family.
Kubota D, Oishi N, Gocho K, Kikuchi S, Yamaki K, Igarashi T, Takahashi H, Ishida N, Iwata T, Mizota A, Kameya S.
Kubota D, et al. Among authors: oishi n.
Ophthalmic Genet. 2019 Oct;40(5):480-487. doi: 10.1080/13816810.2019.1686159. Epub 2019 Nov 7.
Ophthalmic Genet. 2019.
PMID: 31696758
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