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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: 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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3
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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4
المؤلفون: Toshiyuki Fukao, Kazuhide Kawase, Tetsuya Yamamoto, Yoshihiro Hotta, Hidenori Ohnishi, Kentaro Kurata, Katsuhiro Hosono, Hirotomo Saitsu, Shinsei Minoshima, Takahiro Yamamoto, Nobutaka Tachibana, Akiko Hikoya, Yusuke Niimi
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Monosomy, Derivative chromosome, Translocation Breakpoint, Chromosomal translocation, Trisomy, 030105 genetics & heredity, Translocation, Genetic, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Genetics (clinical), Chromosomal Deletion, business.industry, Infant, Newborn, Glaucoma, medicine.disease, eye diseases, Ophthalmology, Phenotype, Aniridia, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, Chromosomes, Human, Pair 6, Female, business, Chromosomes, Human, Pair 18, Comparative genomic hybridization
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ec115c733521ff65c923c97cea4b23c
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5
المؤلفون: Masami Saitoh, Sanae Fujita, Yoji Kato, Hiromi Shibata, Keiichi Takagaki, Ayumi Saitoh, Nobutaka Tachibana, Tetsuo Ohmachi, Takashi Yoshida
المصدر: Journal of Applied Glycoscience. 52:107-113
مصطلحات موضوعية: chemistry.chemical_classification, Gel electrophoresis, biology, Patinopecten yessoensis, Cellulase, biology.organism_classification, Xylan, Carboxymethyl cellulose, chemistry.chemical_compound, Laminarin, Enzyme, chemistry, Biochemistry, medicine, biology.protein, Cellulose, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9e14c5d6fffeb78bf7aae5b31f468cd8
https://doi.org/10.5458/jag.52.107