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2017 1
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2020 17
2021 13
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2023 8
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Page 1
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A, Yoshitake K, Minematsu N, Tsunoda K, Fujinami K, Miyake Y, Kuniyoshi K, Hayashi T, Mizobuchi K, Ueno S, Terasaki H, Kominami T, Nao-I N, Mawatari G, Mizota A, Shinoda K, Kondo M, Kato K, Sekiryu T, Nakamura M, Kusuhara S, Yamamoto H, Yamamoto S, Mochizuki K, Kondo H, Matsushita I, Kameya S, Fukuchi T, Hatase T, Horiguchi M, Shimada Y, Tanikawa A, Yamamoto S, Miura G, Ito N, Murakami A, Fujimaki T, Hotta Y, Tanaka K, Iwata T. Suga A, et al. Among authors: mizobuchi k. Hum Mutat. 2022 Dec;43(12):2251-2264. doi: 10.1002/humu.24492. Epub 2022 Nov 7. Hum Mutat. 2022. PMID: 36284460
RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.
Katagiri S, Hayashi T, Nakamura M, Mizobuchi K, Gekka T, Komori S, Ueno S, Terasaki H, Sakuramoto H, Kuniyoshi K, Kusaka S, Nagashima R, Kondo M, Fujinami K, Tsunoda K, Matsuura T, Kondo H, Yoshitake K, Iwata T, Nakano T. Katagiri S, et al. Among authors: mizobuchi k. Invest Ophthalmol Vis Sci. 2020 Mar 9;61(3):53. doi: 10.1167/iovs.61.3.53. Invest Ophthalmol Vis Sci. 2020. PMID: 32232344 Free PMC article.
Multimodal Imaging of Subfoveal Pachydrusen Containing a Blood Flow Signal.
Ishiguro N, Hayashi T, Yamawaki Y, Mizobuchi K, Yasukawa T, Honda S, Nakano T. Ishiguro N, et al. Among authors: mizobuchi k. Case Rep Ophthalmol Med. 2022 Jun 8;2022:5680913. doi: 10.1155/2022/5680913. eCollection 2022. Case Rep Ophthalmol Med. 2022. PMID: 35721663 Free PMC article.
A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy.
Hayashi T, Mizobuchi K, Kameya S, Yoshitake K, Iwata T, Nakano T. Hayashi T, et al. Among authors: mizobuchi k. Doc Ophthalmol. 2021 Aug;143(1):107-114. doi: 10.1007/s10633-021-09826-y. Epub 2021 Feb 21. Doc Ophthalmol. 2021. PMID: 33611760
54 results