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1دورية أكاديمية
المؤلفون: Hazuki Morikawa, Sachiko Nishina, Kaoruko Torii, Katsuhiro Hosono, Tadashi Yokoi, Chika Shigeyasu, Masakazu Yamada, Motomichi Kosuga, Maki Fukami, Hirotomo Saitsu, Noriyuki Azuma, Yuichi Hori, Yoshihiro Hotta
المصدر: Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2054-345X
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2دورية 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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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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4
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)