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1
المؤلفون: Akane Terasaki, Masayuki Nakamura, Yuka Urata, Hanae Hiwatashi, Izumi Yokoyama, Takeshi Yasuda, Teiichi Onuma, Kazumaru Wada, Sunao Kaneko, Rumiko Kan, Shin-ichi Niwa, Ohiko Hashimoto, Osamu Komure, Yu-ichi Goto, Yuko Yamagishi, Misa Nakano, Yoshihiko Furusawa, Akira Sano
المصدر: Journal of human genetics. 66(4)
مصطلحات موضوعية: Adult, Male, RNA-Binding Proteins, Epilepsies, Myoclonic, Nerve Tissue Proteins, Middle Aged, Autoantigens, Case-Control Studies, Genetics, Humans, Female, Age of Onset, Child, Genetics (clinical), Microsatellite Repeats
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2
المؤلفون: Teiichi Onuma, Shin-Ichi Niwa, Akira Sano, Sunao Kaneko, Izumi Yokoyama, Yu-ichi Goto, Takeshi Yasuda, Yuko Yamagishi, Misa Nakano, Rumiko Kan, Yoshihiko Furusawa, Akane Terasaki, Ohiko Hashimoto, Kazumaru Wada, Hanae Hiwatashi, Masayuki Nakamura, Osamu Komure, Yuka Urata
المصدر: Journal of Human Genetics. 66:449-450
مصطلحات موضوعية: 0301 basic medicine, Genetics, Benign adult familial myoclonic epilepsy, business.industry, Autosomal dominant trait, 030105 genetics & heredity, Genetic analysis, 03 medical and health sciences, 030104 developmental biology, Anticipation (genetics), medicine, Allele, medicine.symptom, Trinucleotide repeat expansion, business, Myoclonus, Genetics (clinical), Southern blot
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3
المؤلفون: Yoshiaki, Nishida, Masayuki, Nakamura, Yuka, Urata, Kei, Kasamo, Hanae, Hiwatashi, Izumi, Yokoyama, Masahiro, Mizobuchi, Kotaro, Sakurai, Yasushi, Osaki, Yukari, Morita, Masako, Watanabe, Kenji, Yoshida, Kiyomi, Yamane, Natsuki, Miyakoshi, Ryouichi, Okiyama, Takehiro, Ueda, Noritaka, Wakasugi, Yuji, Saitoh, Takashi, Sakamoto, Yuji, Takahashi, Ken, Shibano, Hideki, Tokuoka, Atsushi, Hara, Kazunari, Monma, Katsuhisa, Ogata, Keita, Kakuda, Hideki, Mochizuki, Takeo, Arai, Manabu, Araki, Takeshi, Fujii, Kazuto, Tsukita, Haruhi, Sakamaki-Tsukita, Akira, Sano
المصدر: Neurology: Genetics
مصطلحات موضوعية: Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::73304f1eea3a125cb07b05e3aa847e05
https://pubmed.ncbi.nlm.nih.gov/31192303 -
4
المؤلفون: Yuka, Urata, Masayuki, Nakamura, Natsuki, Sasaki, Nari, Shiokawa, Yoshiaki, Nishida, Kaoru, Arai, Hanae, Hiwatashi, Izumi, Yokoyama, Shinsuke, Narumi, Yasuo, Terayama, Takenobu, Murakami, Yoshikazu, Ugawa, Hiroki, Sakamoto, Satoshi, Kaneko, Yusuke, Nakazawa, Ryo, Yamasaki, Shoko, Sadashima, Toshiaki, Sakai, Hiroaki, Arai, Akira, Sano
المصدر: Neurology: Genetics
مصطلحات موضوعية: chemical and pharmacologic phenomena, Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::9a50760b3578700f55aed7d59659fdea
https://pubmed.ncbi.nlm.nih.gov/31086825 -
5
المؤلفون: Masako Watanabe, Kenji Yoshida, Kazuto Tsukita, Noritaka Wakasugi, Hideki Mochizuki, Ryouichi Okiyama, Yasushi Osaki, Atsushi Hara, Kiyomi Yamane, Katsuhisa Ogata, Kotaro Sakurai, Kei Kasamo, Yuka Urata, Kazunari Monma, Ken Shibano, Yukari Morita, Takehiro Ueda, Yuji Saitoh, Hanae Hiwatashi, Manabu Araki, Yuji Takahashi, Natsuki Miyakoshi, Masahiro Mizobuchi, Keita Kakuda, Akira Sano, Masayuki Nakamura, Haruhi Sakamaki-Tsukita, Takashi Sakamoto, Takeo Arai, Yoshiaki Nishida, Izumi Yokoyama, Takeshi Fujii, Hideki Tokuoka
المصدر: Neurology Genetics. 5(3):e332-e332
مصطلحات موضوعية: 0301 basic medicine, Vacuolar protein sorting, Genetics, Mutation, business.industry, Gene mutation, medicine.disease_cause, medicine.disease, Blot, 03 medical and health sciences, Exon, 030104 developmental biology, 0302 clinical medicine, Medicine, Neurology (clinical), Copy-number variation, business, Gene, 030217 neurology & neurosurgery, Genetics (clinical), Chorea acanthocytosis
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a51e7aaa2b19ba7c02f702d9d25c2ea2
https://hdl.handle.net/20.500.14094/90006874 -
6
المؤلفون: Yusuke Nakazawa, Nari Shiokawa, Yoshiaki Nishida, Yuka Urata, Masayuki Nakamura, Kaoru Arai, Shoko Sadashima, Yoshikazu Ugawa, Natsuki Sasaki, Toshiaki Sakai, Ryo Yamasaki, Hiroki Sakamoto, Izumi Yokoyama, Yasuo Terayama, Shinsuke Narumi, Akira Sano, Takenobu Murakami, Hiroaki Arai, Hanae Hiwatashi, Satoshi Kaneko
المصدر: Neurology Genetics. 5:e328
مصطلحات موضوعية: 0301 basic medicine, Immunoprecipitation, Mutant, chemical and pharmacologic phenomena, Biology, medicine.disease, Molecular biology, Molecular analysis, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Antigen, Immunoblot Analysis, medicine, Mutation testing, biology.protein, McLeod syndrome, Neurology (clinical), Antibody, 030217 neurology & neurosurgery, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fbdbe3cd8820e6bef1c856ef60648cdd
https://doi.org/10.1212/nxg.0000000000000328