-
1دورية أكاديمية
المؤلفون: Higashi, Kanako, Sonoda, Yuri, Kaku, Noriyuki, Fujii, Fumihiko, Yamashita, Fumiya, Lee, Sooyoung, Tocan, Vlad, Ebihara, Go, Matsuoka, Wakato, Tetsuhara, Kenichi, Sonoda, Motoshi, Chong, Pin Fee, Mushimoto, Yuichi, Kojima‐Ishii, Kanako, Ishimura, Masataka, Koga, Yuhki, Fukuta, Atsuhisa, Tsuchihashi, Nana Akagi, Kikuchi, Yoshikazu, Karashima, Takahito, Sawada, Takaaki, Hotta, Taeko, Yoshimitsu, Makoto, Terazono, Hideyuki, Tajiri, Tatsuro, Nakagawa, Takashi, Sakai, Yasunari, Nakamura, Kimitoshi, Ohga, Shouichi
المساهمون: Japan Society for the Promotion of Science
المصدر: Molecular Genetics & Genomic Medicine ; volume 12, issue 4 ; ISSN 2324-9269 2324-9269
-
2دورية أكاديمية
المؤلفون: Nakashima, Kentaro, Imai, Takashi, Shiraishi, Akira, Unose, Ryoko, Goto, Hironori, Nagatomo, Yusaku, Kojima-Ishii, Kanako, Mushimoto, Yuichi, Nishiyama, Kei, Yamamura, Kenichiro, Nagata, Hazumu, Ishimura, Masataka, Kusuhara, Koichi, Koga, Yuhki, Sakai, Yasunari, Ohga, Shouichi
المصدر: Clin Exp Immunol ; ISSN:1365-2249
مصطلحات موضوعية: Dendritic cells, Down syndrome, Innate immunity, Monocytes, Senescence, and Molecular pathway
-
3دورية أكاديمية
المؤلفون: Kido, Jun, Häberle, Johannes, Sugawara, Keishin, Tanaka, Toju, Nagao, Masayoshi, Sawada, Takaaki, Wada, Yoichi, Numakura, Chikahiko, Murayama, Kei, Watanabe, Yoriko, Kojima-Ishii, Kanako, Sasai, Hideo, Kosugiyama, Kiyotaka, Nakamura, Kimitoshi
المصدر: Kido, Jun; Häberle, Johannes; Sugawara, Keishin; Tanaka, Toju; Nagao, Masayoshi; Sawada, Takaaki; Wada, Yoichi; Numakura, Chikahiko; Murayama, Kei; Watanabe, Yoriko; Kojima-Ishii, Kanako; Sasai, Hideo; Kosugiyama, Kiyotaka; Nakamura, Kimitoshi (2022). Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan. Journal of Inherited Metabolic Disease, 45(3):431-444.
مصطلحات موضوعية: Medical Clinic, 610 Medicine & health
وصف الملف: application/pdf
العلاقة: https://www.zora.uzh.ch/id/eprint/229872/1/ZORA_229872.pdfTest; https://www.zora.uzh.ch/id/eprint/229872/8/ZORA229872.pdfTest; https://www.zora.uzh.ch/id/eprint/229872/9/ZORA229872_Suppl.pdfTest; info:pmid/35142380; urn:issn:0141-8955
الإتاحة: https://doi.org/10.5167/uzh-22987210.1002/jimd.12483Test
https://www.zora.uzh.ch/id/eprint/229872Test/
https://www.zora.uzh.ch/id/eprint/229872/1/ZORA_229872.pdfTest
https://www.zora.uzh.ch/id/eprint/229872/8/ZORA229872.pdfTest
https://www.zora.uzh.ch/id/eprint/229872/9/ZORA229872_Suppl.pdfTest -
4دورية أكاديمية
المؤلفون: Eguchi, Hiroi, Kakiuchi, Toshihiko, Nishi, Masanori, Kojima-Ishii, Kanako, Nishiyama, Kei, Koga, Yuhki, Matsuo, Muneaki
المصدر: Frontiers in Pediatrics ; volume 10 ; ISSN 2296-2360
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health
-
5دورية أكاديمية
المؤلفون: Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Momosaki, Ken, Yoshida, Shinichiro, Kojima-Ishii, Kanako, Inoue, Takahito, Matsumoto, Shirou, Endo, Fumio, Ohga, Shouichi, Hirose, Shinichi, Nakamura, Kimitoshi
المساهمون: Ministry of Health, Labour and Welfare, Ministry of Education, Culture, Sports, Science, and Technology
المصدر: Orphanet Journal of Rare Diseases ; volume 16, issue 1 ; ISSN 1750-1172
مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine
-
6دورية أكاديمية
المؤلفون: Kido, Jun, Matsumoto, Shirou, Ito, Tetsuya, Hirose, Shinichi, Fukui, Kaori, Kojima-Ishii, Kanako, Mushimoto, Yuichi, Yoshida, Shinobu, Ishige, Mika, Sakai, Norio, Nakamura, Kimitoshi
المساهمون: Japan Society for the Promotion of Science, Ministry of Education, Culture, Sports, Science and Technology, Ministry of Health, Labour and Welfare, Japan Agency for Medical Research and Development
المصدر: Molecular Genetics and Metabolism Reports ; volume 27, page 100724 ; ISSN 2214-4269
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology
الإتاحة: https://doi.org/10.1016/j.ymgmr.2021.100724Test
https://api.elsevier.com/content/article/PII:S2214426921000185?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426921000185?httpAccept=text/plainTest -
7
المؤلفون: China Nagano, Akira Otake, Hiroyuki Mishima, Yasutoshi Koga, Hisato Suzuki, Koh-ichiro Yoshiura, Kei Murayama, Tomohiko Yamamura, Kojima Ishii Kanako, Kenjiro Kosaki, Satoshi Murata, Kazumoto Iijima, Koji Nagatani, Nana Sakakibara, Tomoko Horinouchi, Yuichi Mushimoto, Yuko Ichimiya, Tomoko Uehara, Kandai Nozu
المصدر: Journal of Human Genetics. 67(3):143-148
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Mitochondrial Diseases, BCS1L, Developmental Disabilities, Cardiomyopathy, Compound heterozygosity, Bioinformatics, Electron Transport Complex III, hemic and lymphatic diseases, Genetics, Humans, Medicine, Child, Gene, Genetics (clinical), Paediatric kidney disease, business.industry, nutritional and metabolic diseases, Fanconi syndrome, Metabolic acidosis, medicine.disease, Mitochondrial respiratory chain complex III, Mutation, ATPases Associated with Diverse Cellular Activities, business, Hypophosphatemia
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b06d67620a86f8c978708e9b72598dbTest
https://hdl.handle.net/20.500.14094/0100481828Test -
8دورية أكاديمية
المؤلفون: Tocan, Vlad, Ohkubo, Kazuhiro, Higashi, Kanako, Toda, Naoko, Kojima-Ishii, Kanako, Nishiyama, Kei, Ishimura, Masataka, Takada, Hidetoshi, Sakamoto, Osamu, Sasaki, Fusako, Yoshimura, Kazuko, Hirose, Shinichi, Ohga, Shouichi
المصدر: Pediatrics & Neonatology ; volume 59, issue 4, page 415-417 ; ISSN 1875-9572
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.pedneo.2017.11.002Test
https://api.elsevier.com/content/article/PII:S1875957217301626?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1875957217301626?httpAccept=text/plainTest -
9دورية أكاديمية
المؤلفون: Tocan, Vlad, Mushimoto, Yuichi, Kojima‐Ishii, Kanako, Matsuda, Akane, Toda, Naoko, Toyomura, Daisuke, Hirata, Yuichiro, Sanefuji, Masafumi, Sawada, Takaaki, Sakai, Yasunari, Nakamura, Kimitoshi, Ohga, Shouichi
المصدر: Pediatrics International ; volume 64, issue 1 ; ISSN 1328-8067 1442-200X
-
10دورية أكاديمية
المؤلفون: Yamamoto, Shunsuke, Nakao, Shingo, Inoue, Hirosuke, Koga, Yuhki, Kojima‐Ishii, Kanako, Semba, Yuichiro, Maeda, Takahiro, Akashi, Koichi, Ohga, Shouichi
المصدر: Pediatric Blood & Cancer ; volume 70, issue 2 ; ISSN 1545-5009 1545-5017