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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2010 4
2011 1
2012 2
2013 2
2014 3
2015 1
2016 3
2017 2
2018 8
2019 6
2020 8
2021 9
2022 5
2023 2
2024 0

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49 results

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Page 1
Exophthalmos associated with chronic progressive external ophthalmoplegia.
Takeda Y, Suzuki H, Hosono K, Hikoya A, Komori M, Inagaki R, Haseoka T, Arai S, Takagi Y, Hotta Y, Sato M. Takeda Y, et al. Among authors: hosono k. Jpn J Ophthalmol. 2022 May;66(3):314-319. doi: 10.1007/s10384-022-00920-5. Epub 2022 Apr 19. Jpn J Ophthalmol. 2022. PMID: 35438395
De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.
Itai T, Wang Z, Nishimura G, Ohashi H, Guo L, Wakano Y, Sugiura T, Hayakawa H, Okada M, Saisu T, Kitta A, Doi H, Kurosawa K, Hotta Y, Hosono K, Sato M, Shimizu K, Takikawa K, Watanabe S, Ikeda N, Suzuki M, Fujita A, Uchiyama Y, Tsuchida N, Miyatake S, Miyake N, Matsumoto N, Ikegawa S. Itai T, et al. Among authors: hosono k. Clin Genet. 2022 Jul;102(1):3-11. doi: 10.1111/cge.14133. Epub 2022 Apr 5. Clin Genet. 2022. PMID: 35342932
Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa.
Tachibana N, Hosono K, Nomura S, Arai S, Torii K, Kurata K, Sato M, Shimakawa S, Azuma N, Ogata T, Wada Y, Okamoto N, Saitsu H, Nishina S, Hotta Y. Tachibana N, et al. Among authors: hosono k. Genes (Basel). 2022 Feb 16;13(2):359. doi: 10.3390/genes13020359. Genes (Basel). 2022. PMID: 35205402 Free PMC article.
Retinitis pigmentosa with optic neuropathy and COQ2 mutations: A case report.
Kurata K, Hosono K, Takayama M, Katsuno M, Saitsu H, Ogata T, Hotta Y. Kurata K, et al. Among authors: hosono k. Am J Ophthalmol Case Rep. 2022 Jan 20;25:101298. doi: 10.1016/j.ajoc.2022.101298. eCollection 2022 Mar. Am J Ophthalmol Case Rep. 2022. PMID: 35112026 Free PMC article.
Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques.
Fujinami-Yokokawa Y, Ninomiya H, Liu X, Yang L, Pontikos N, Yoshitake K, Iwata T, Sato Y, Hashimoto T, Tsunoda K, Miyata H, Fujinami K; Japan Eye Genetics Study (JEGC) Group. Fujinami-Yokokawa Y, et al. Br J Ophthalmol. 2021 Sep;105(9):1272-1279. doi: 10.1136/bjophthalmol-2020-318544. Epub 2021 Apr 20. Br J Ophthalmol. 2021. PMID: 33879469 Free PMC article.
49 results