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1دورية أكاديمية
المؤلفون: Kaoruko Torii, Sachiko Nishina, Hazuki Morikawa, Kei Mizobuchi, Masakazu Takayama, Nobutaka Tachibana, Kentaro Kurata, Akiko Hikoya, Miho Sato, Tadashi Nakano, Maki Fukami, Noriyuki Azuma, Takaaki Hayashi, Hirotomo Saitsu, Yoshihiro Hotta
المصدر: International Journal of Molecular Sciences, Vol 24, Iss 18, p 13678 (2023)
مصطلحات موضوعية: Leber congenital amaurosis (LCA), RPGRIP1, whole-exome sequencing (WES), whole-genome sequencing (WGS), structural abnormalities, prevalent variant, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Kentaro Kurata, Katsuhiro Hosono, Masakazu Takayama, Masahisa Katsuno, Hirotomo Saitsu, Tsutomu Ogata, Yoshihiro Hotta
المصدر: American Journal of Ophthalmology Case Reports, Vol 25, Iss , Pp 101298- (2022)
مصطلحات موضوعية: Retinitis pigmentosa, Optic neuropathy, COQ2 gene, Targeted next-generation sequencing, Ophthalmology, RE1-994
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Nobutaka Tachibana, Katsuhiro Hosono, Shuhei Nomura, Shinji Arai, Kaoruko Torii, Kentaro Kurata, Miho Sato, Shuichi Shimakawa, Noriyuki Azuma, Tsutomu Ogata, Yoshinao Wada, Nobuhiko Okamoto, Hirotomo Saitsu, Sachiko Nishina, Yoshihiro Hotta
المصدر: Genes, Vol 13, Iss 2, p 359 (2022)
مصطلحات موضوعية: uniparental isodisomy, retinal dystrophy, congenital disorders of glycosylation, SRD5A3 gene, RP1-related retinitis pigmentosa, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Kei Mizobuchi, Takaaki Hayashi, Noriko Oishi, Daiki Kubota, Shuhei Kameya, Koichiro Higasa, Takuma Futami, Hiroyuki Kondo, Katsuhiro Hosono, Kentaro Kurata, Yoshihiro Hotta, Kazutoshi Yoshitake, Takeshi Iwata, Tomokazu Matsuura, Tadashi Nakano
المصدر: Journal of Clinical Medicine, Vol 10, Iss 11, p 2265 (2021)
مصطلحات موضوعية: RP1 gene, next generation sequencing, retinitis pigmentosa, cone-rod dystrophy, inherited retinal disease, Medicine
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Kentaro Kurata, Katsuhiro Hosono, Yoshihiro Hotta
المصدر: Case Reports in Ophthalmology, Vol 8, Iss 1, Pp 237-244 (2017)
مصطلحات موضوعية: Complete congenital stationary night blindness, Long-term observation, Visual function, Electroretinogram, Ophthalmology, RE1-994
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Kentaro Kurata, Katsuhiro Hosono, Takaaki Hayashi, Kei Mizobuchi, Satoshi Katagiri, Daisuke Miyamichi, Sachiko Nishina, Miho Sato, Noriyuki Azuma, Tadashi Nakano, Yoshihiro Hotta
المصدر: International Journal of Molecular Sciences, Vol 20, Iss 6, p 1518 (2019)
مصطلحات موضوعية: retinitis pigmentosa, X-linked inheritance, RPGR, RP2, visual function, genetic findings, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Katsuhiro Hosono, Yuko Harada, Kentaro Kurata, Akiko Hikoya, Miho Sato, Shinsei Minoshima, Yoshihiro Hotta
المصدر: Journal of Ophthalmology, Vol 2015 (2015)
مصطلحات موضوعية: Ophthalmology, RE1-994
وصف الملف: electronic resource
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8
المؤلفون: Kentaro KURATA, Hiroki MANO, Masahisa SAKURAI, Mitsuo NOTOMI
المصدر: Journal of the Society of Materials Science, Japan. 71:903-909
مصطلحات موضوعية: Mechanics of Materials, Mechanical Engineering, General Materials Science, Condensed Matter Physics
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b8639146ea86110b98b64654eb7159fd
https://doi.org/10.2472/jsms.71.903 -
9
المؤلفون: Akiko Hikoya, Katsuhiro Hosono, Kaoru Ono, Shinji Arai, Nobutaka Tachibana, Kentaro Kurata, Kaoruko Torii, Miho Sato, Hirotomo Saitsu, Tsutomu Ogata, Yoshihiro Hotta
المصدر: Ophthalmic Genetics. :1-6
مصطلحات موضوعية: Ophthalmology, Pediatrics, Perinatology and Child Health, Genetics (clinical)
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10
المؤلفون: Kentaro Kurata, Yasuhiro Ikeda, Yuko Wada, Koh Hei Sonoda, Koji M. Nishiguchi, Michiaki Kubo, Masato Akiyama, Katsuhiro Hosono, Toru Nakazawa, Tatsuro Ishibashi, Shinji Ueno, Sadaaki Takata, Yukihide Momozawa, Dan Gao, Yusuke Iwasaki, Akira Murakami, Yoichiro Kamatani, Chihiro Inai, Mikako Kumano, Yusuke Murakami, Shiori Komori, Hiroko Terasaki, Yoshihiro Hotta, Yoshito Koyanagi
المصدر: Japanese Journal of Ophthalmology. 65:338-343
مصطلحات موضوعية: Proband, Genetics, PRPF31, Causative gene, General Medicine, Biology, Japanese population, medicine.disease, Ophthalmology, Multicenter study, Retinitis pigmentosa, medicine, Gene, Regional differences