Miyamichi D - Search Results

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Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.

Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y. Hosono K, et al. Among authors: miyamichi d. Sci Rep. 2018 May 29;8(1):8279. doi: 10.1038/s41598-018-26524-z. Sci Rep. 2018. PMID: 29844330 Free PMC article.

Retinal structure in Leber's congenital amaurosis caused by RPGRIP1 mutations.

Miyamichi D, Nishina S, Hosono K, Yokoi T, Kurata K, Sato M, Hotta Y, Azuma N. Miyamichi D, et al. Hum Genome Var. 2019 Jun 27;6:32. doi: 10.1038/s41439-019-0064-8. eCollection 2019. Hum Genome Var. 2019. PMID: 31666973 Free PMC article.

Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.

Miyamichi D, Asahina M, Nakajima J, Sato M, Hosono K, Nomura T, Negishi T, Miyake N, Hotta Y, Ogata T, Matsumoto N. Miyamichi D, et al. J Hum Genet. 2016 Sep;61(9):839-42. doi: 10.1038/jhg.2016.56. Epub 2016 May 26. J Hum Genet. 2016. PMID: 27225848

X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.

Kurata K, Hosono K, Hayashi T, Mizobuchi K, Katagiri S, Miyamichi D, Nishina S, Sato M, Azuma N, Nakano T, Hotta Y. Kurata K, et al. Among authors: miyamichi d. Int J Mol Sci. 2019 Mar 26;20(6):1518. doi: 10.3390/ijms20061518. Int J Mol Sci. 2019. PMID: 30917587 Free PMC article.

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