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1دورية أكاديمية
المؤلفون: Takuya Hiraide, Taiju Hayashi, Yusuke Ito, Rei Urushibata, Hiroshi Uchida, Ryoichi Kitagata, Hidetoshi Ishigaki, Tsutomu Ogata, Hirotomo Saitsu, Tokiko Fukuda
المصدر: Frontiers in Pediatrics, Vol 12 (2024)
مصطلحات موضوعية: TPRKB, Galloway-Mowat syndrome, exome sequencing, KEOPS complex, nephrotic proteinuria, Pediatrics, RJ1-570
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Ken Saida, Tokiko Fukuda, Daryl A. Scott, Toru Sengoku, Kazuhiro Ogata, Annarita Nicosia, Andres Hernandez-Garcia, Seema R. Lalani, Mahshid S. Azamian, Haley Streff, Pengfei Liu, Hongzheng Dai, Takeshi Mizuguchi, Satoko Miyatake, Miki Asahina, Tsutomu Ogata, Noriko Miyake, Naomichi Matsumoto
المصدر: Frontiers in Cell and Developmental Biology, Vol 9 (2021)
مصطلحات موضوعية: OTUD5, X-linked intellectual disability, LINKED syndrome, deubiquitinase, congenital malformation, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Yasuhiko Ago, Hideo Sugie, Tokiko Fukuda, Hiroki Otsuka, Hideo Sasai, Mina Nakama, Elsayed Abdelkreem, Toshiyuki Fukao
المصدر: JIMD Reports, Vol 48, Iss 1, Pp 15-18 (2019)
مصطلحات موضوعية: case report, enzyme assay, gene panel, glycogen storage disease type IXa, ketotic hypoglycemia, variant PHKA2, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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4دورية أكاديمية
المؤلفون: Hiroyuki Iijima, Reiko Iwano, Yukichi Tanaka, Koji Muroya, Tokiko Fukuda, Hideo Sugie, Kenji Kurosawa, Masanori Adachi
المصدر: Molecular Genetics and Metabolism Reports, Vol 17, Iss , Pp 31-37 (2018)
مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Keiko Ichimoto, Tomoo Fujisawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika, Ayako Matsunaga, Minako Ogawa-Tominaga, Nana Akiyama, Yuki Naruke, Hiroshi Horie, Tokiko Fukuda, Hideo Sugie, Ayano Inui, Kei Murayama
المصدر: Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100601- (2020)
مصطلحات موضوعية: Andersen disease, GBE1, GSD IV, M2BPGi, Nutrition therapy, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Shinji Itamura, Tohru Okanishi, Yoshifumi Arai, Mitsuyo Nishimura, Shimpei Baba, Naoki Ichikawa, Yoshimichi Hirayama, Naoko Ishihara, Takuya Hiraide, Hidetoshi Ishigaki, Tokiko Fukuda, Yoshiro Otsuki, Hideo Enoki, Ayataka Fujimoto
المصدر: Frontiers in Neurology, Vol 10 (2019)
مصطلحات موضوعية: hemiconvulsion-hemiplegia-epilepsy syndrome, hemispherotomy, focal cortical dysplasia, cortical malformation, intractable epilepsy, epilepsy surgery, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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7
المؤلفون: Madoka Mori-Yoshimura, Kazutaka Aizawa, Yasushi Oya, Yoshihiko Saito, Tokiko Fukuda, Hideo Sugie, Ichizo Nishino, Yuji Takahashi
المصدر: Neuromuscular Disorders. 32:769-773
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
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8
المؤلفون: Tokiko Fukuda, Tetsuya Ito, Takashi Hamazaki, Ayano Inui, Mika Ishige, Reiko Kagawa, Norio Sakai, Yoriko Watanabe, Hironori Kobayashi, Yosuke Wasaki, Junki Taura, Yuki Imamura, Tsutomu Tsukiuda, Kimitoshi Nakamura
المصدر: Journal of Inherited Metabolic Disease.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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9
المؤلفون: Yoshihiko Saito, Kimitoshi Nakamura, Tokiko Fukuda, Hideo Sugie, Shinichiro Hayashi, Satoru Noguchi, Ichizo Nishino
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 93:1142-1145
مصطلحات موضوعية: Psychiatry and Mental health, Surgery, Neurology (clinical)
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10
المؤلفون: Ichizo Nishino, Tokiko Fukuda, Yutaka Ohsawa, Shin-ichiro Nishimatsu, Yoshihiko Saito, Hirotake Nishimura, Asami Munekane, Yoshihide Sunada, Hideo Sugie
المصدر: Internal Medicine. 61:1241-1245
مصطلحات موضوعية: Male, myalgia, medicine.medical_specialty, Adolescent, Phosphorylase Kinase, Protein subunit, Glycogen phosphorylase, Internal medicine, Internal Medicine, medicine, Humans, Insertion, Muscle biopsy, medicine.diagnostic_test, business.industry, Kinase, Muscles, Metabolic disorder, VO2 max, Genetic Diseases, X-Linked, Myalgia, General Medicine, Glycogen Storage Disease, medicine.disease, Endocrinology, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efac16aa2f4a6983870900c4f4c89a3a
https://doi.org/10.2169/internalmedicine.8137-21