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收藏分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis
Kawai, Yosuke; Watanabe, Yusuke; Omae, Yosuke; Miyahara, Reiko; Khor, Seik-Soon; Noiri, Eisei; Kitajima, Koji; Shimanuki, Hideyuki; Gatanaga, Hiroyuki; Hata, Kenichiro; Hattori, Kotaro; Iida, Aritoshi; Ishibashi-Ueda, Hatsue; Kaname, Tadashi; Kanto, Tatsuya; Matsumura, Ryo; Miyo, Kengo; Noguchi, Michio; Ozaki, Kouichi; Sugiyama, Masaya; Takahashi, Ayako; Tokuda, Haruhiko; Tomita, Tsutomu; Umezawa, Akihiro; Watanabe, Hiroshi; Yoshida, Sumiko; Goto, Yu-ichi; Maruoka, Yutaka; Matsubara, Yoichi; Niida, Shumpei; Mizokami, Masashi; Tokunaga, Katsushi 分享 收藏 Branchpoints as potential targets of exon-skipping therapies for genetic disordersOhara, Hiroaki; Hosokawa, Motoyasu; Awaya, Tomonari; Hagiwara, Atsuko; Kurosawa, Ryo; Sako, Yukiya; Ogawa, Megumu; Ogasawara, Masashi; Noguchi, Satoru; Goto, Yuichi; Takahashi, Ryosuke; Nishino, Ichizo; Hagiwara, Masatoshi 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencingHiramuki, Yosuke; Kure, Yuriko; Saito, Yoshihiko; Ogawa, Megumu; Ishikawa, Keiko; Mori-Yoshimura, Madoka; Oya, Yasushi; Takahashi, Yuji; Kim, Dae-Seong; Arai, Noriko; Mori, Chiaki; Matsumura, Tsuyoshi; Hamano, Tadanori; Nakamura, Kenichiro; Ikezoe, Koji; Hayashi, Shinichiro; Goto, Yuichi; Noguchi, Satoru; Nishino, Ichizo 分享 收藏 Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder, Schizophrenia, and Autism Spectrum DisorderKushima, Itaru; Nakatochi, Masahiro; Aleksic, Branko; Okada, Takashi; Kimura, Hiroki; Kato, Hidekazu; Morikawa, Mako; Inada, Toshiya; Ishizuka, Kanako; Torii, Youta; Nakamura, Yukako; Tanaka, Satoshi; Imaeda, Miho; Takahashi, Nagahide; Yamamoto, Maeri; Iwamoto, Kunihiro; Nawa, Yoshihiro; Ogawa, Nanayo; Iritani, Shuji; Hayashi, Yu; Lo, Tzuyao; Otgonbayar, Gantsooj; Furuta, Sho; Iwata, Nakao; Ikeda, Masashi; Saito, Takeo; Ninomiya, Kohei; Okochi, Tomo; Hashimoto, Ryota; Yamamori, Hidenaga; Yasuda, Yuka; Fujimoto, Michiko; Miura, Kenichiro; Itokawa, Masanari; Arai, Makoto; Miyashita, Mitsuhiro; Toriumi, Kazuya; Ohi, Kazutaka; Shioiri, Toshiki; Kitaichi, Kiyoyuki; Someya, Toshiyuki; Watanabe, Yuichiro; Egawa, Jun; Takahashi, Tsutomu; Suzuki, Michio; Sasaki, Tsukasa; Tochigi, Mamoru; Nishimura, Fumichika; Yamasue, Hidenori; Kuwabara, Hitoshi; Wakuda, Tomoyasu; Kato, Takahiro A.; Kanba, Shigenobu; Horikawa, Hideki; Usami, Masahide; Kodaira, Masaki; Watanabe, Kyota; Yoshikawa, Takeo; Toyota, Tomoko; Yokoyama, Shigeru; Munesue, Toshio; Kimura, Ryo; Funabiki, Yasuko; Kosaka, Hirotaka; Jung, Minyoung; Kasai, Kiyoto; Ikegame, Tempei; Jinde, Seiichiro; Numata, Shusuke; Kinoshita, Makoto; Kato, Tadafumi; Kakiuchi, Chihiro; Yamakawa, Kazuhiro; Suzuki, Toshimitsu; Hashimoto, Naoki; Ishikawa, Shuhei; Yamagata, Bun; Nio, Shintaro; Murai, Toshiya; Son, Shuraku; Kunii, Yasuto; Yabe, Hirooki; Inagaki, Masumi; Goto, Yu-ichi; Okumura, Yuto; Ito, Tomoya; Arioka, Yuko; Mori, Daisuke; Ozaki, Norio 分享 收藏 Loss of Ftsj1 perturbs codon-specific translation efficiency in the brain and is associated with X-linked intellectual disabilityNagayoshi, Y.; Chujo, T.; Hirata, S.; Nakatsuka, H.; Chen, C-W; Takakura, M.; Miyauchi, K.; Ikeuchi, Y.; Carlyle, B. C.; Kitchen, R. R.; Suzuki, T.; Katsuoka, F.; Yamamoto, M.; Goto, Y.; Tanaka, M.; Natsume, K.; Nairn, A. C.; Tomizawa, K.; Wei, F-Y 分享 收藏 Hyperglycemic Crisis in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS)Toki, Taira; Shimizu-Motohashi, Yuko; Komaki, Hirofumi; Takeshita, Eri; Ishiyama, Akihiko; Saito, Takashi; Mori-Yoshimura, Madoka; Sumitomo, Noriko; Hirasawa-Inoue, Ayaka; Nakagawa, Eiji; Nishino, Ichizo; Goto, Yu-ichi; Sasaki, Masayuki 分享 收藏 Down syndrome cell adhesion molecule like-1 (DSCAML1) links the GABA system and seizure susceptibilityHayase, Yoneko; Amano, Shigeru; Hashizume, Koichi; Tominaga, Takashi; Miyamoto, Hiroyuki; Kanno, Yukie; Ueno-Inoue, Yukiko; Inoue, Takayoshi; Yamada, Mayumi; Ogata, Shigehiro; Balan, Shabeesh; Hayashi, Ken; Miura, Yoshiki; Tokudome, Kentaro; Ohno, Yukihiro; Nishijo, Takuma; Momiyama, Toshihiko; Yanagawa, Yuchio; Takizawa, Akiko; Mashimo, Tomoji; Serikawa, Tadao; Sekine, Akihiro; Nakagawa, Eiji; Takeshita, Eri; Yoshikawa, Takeo; Waga, Chikako; Inoue, Ken; Goto, Yu-ichi; Nabeshima, Yoichi; Ihara, Nobuo; Yamakawa, Kazuhiro; Taya, Shinichiro; Hoshino, Mikio 分享 收藏 Chemical reversal of abnormalities in cells carrying mitochondrial DNA mutationsKobayashi, Hiroki; Hatakeyama, Hideyuki; Nishimura, Haruna; Yokota, Mutsumi; Suzuki, Sadafumi; Tomabechi, Yuri; Shirouzu, Mikako; Osada, Hiroyuki; Mimaki, Masakazu; Goto, Yu-ichi; Yoshida, Minoru 分享 收藏 分享 收藏 Higd1a improves respiratory function in the models of mitochondrial disorderNagao, Takemasa; Shintani, Yasunori; Hayashi, Takaharu; Kioka, Hidetaka; Kato, Hisakazu; Nishida, Yuya; Yamazaki, Satoru; Tsukamoto, Osamu; Yashirogi, Shohei; Yazawa, Issei; Asano, Yoshihiro; Shinzawa-Itoh, Kyoko; Imamura, Hiromi; Suzuki, Takeo; Suzuki, Tsutomu; Goto, Yu-ichi; Takashima, Seiji 分享 收藏 
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