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Author/Creator Hotta, Yoshihiro

13. Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing. Issue 11 (15th June 2022)

Authors:
Sano, Yusuke; Koyanagi, Yoshito; Wong, Jing Hao; Murakami, Yusuke; Fujiwara, Kohta; Endo, Mikiko; Aoi, Tomomi; Hashimoto, Kazuki; Nakazawa, Toru; Wada, Yuko; Ueno, Shinji; Gao, Dan; Murakami, Akira; Hotta, Yoshihiro; Ikeda, Yasuhiro; Nishiguchi, Koji M; Momozawa, Yukihide; Sonoda, Koh-Hei; Akiyam...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 11(2022)
Page Start:
1133
Record Type:
Journal Article
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14. Long‐term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1. Issue 6 (27th March 2020)

Authors:
Hayashi, Takaaki; Hosono, Katsuhiro; Kubo, Akiko; Kurata, Kentaro; Katagiri, Satoshi; Mizobuchi, Kei; Kurai, Minehiro; Mamiya, Norihito; Kondo, Mineo; Tachibana, Toshiaki; Saitsu, Hirotomo; Ogata, Tsutomu; Nakano, Tadashi; Hotta, Yoshihiro
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 6(2020)
Page Start:
1500
Record Type:
Journal Article
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16. Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations. (19th May 2018)

Authors:
Nagase, Yasunori; Kurata, Kentaro; Hosono, Katsuhiro; Suto, Kimiko; Hikoya, Akiko; Nakanishi, Hiroshi; Mizuta, Kunihiro; Mineta, Hiroyuki; Minoshima, Shinsei; Hotta, Yoshihiro
Journal:
Seminars in ophthalmology
Issue:
Volume 33:Number 4(2018)
Page Start:
560
Record Type:
Journal Article
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