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Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation dna sequencing Hijikata, Atsushi; Suyama, Mikita; Kikugawa, Shingo; Matoba, Ryo; Naruto, Takuya; Enomoto, Yumi; Kurosawa, Kenji; Harada, Naoki; Yanagi, Kumiko; Kaname, Tadashi; Miyako, Keisuke; Takazawa, Masaki; Sasai, Hideo; Hosokawa, Junichi; Itoga, Sakae; Yamaguchi, Tomomi; Kosho, Tomoki; Matsubara, Keiko; Kuroki, Yoko; Fukami, Maki; Adachi, Kaori; Nanba, Eiji; Tsuchida, Naomi; Uchiyama, Yuri; Matsumoto, Naomichi; Nishimura, Kunihiro; Ohara, Osamu 分享 收藏
Association of IL-4 with pachychoroid neovasculopathy Baba, Takashi; Koyama, Ayumi; Uotani, Ryu; Miyake, Hitomi; Inata, Kodai; Sasaki, Shin-ichi; Shimizu, Yumiko; Inoue, Yoshitsugu; Adachi, Kaori; Nanba, Eiji; Miyazaki, Dai 分享 收藏
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CGG repeat RNA G-quadruplexes interact with FMRpolyG to cause neuronal dysfunction in fragile X-related tremor/ataxia syndrome Asamitsu, Sefan; Yabuki, Yasushi; Ikenoshita, Susumu; Kawakubo, Kosuke; Kawasaki, Moe; Usuki, Shingo; Nakayama, Yuji; Adachi, Kaori; Kugoh, Hiroyuki; Ishii, Kazuhiro; Matsuura, Tohru; Nanba, Eiji; Sugiyama, Hiroshi; Fukunaga, Kohji; Shioda, Norifumi 分享 收藏
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Tailoring the inhibitory versus chaperoning behavior of amphiphilic sp2-iminosugar glycomimetics targeting β-glucocerebrosidase: From micromolar to picomolar chaperones for Gaucher disease Garcia Fernandez, Jose M.; Mena-Barragan, Teresa; Isabel Garcia-Moreno, M.; Sevsek, Alev; Okazaki, Tetsuya; Nanba, Eiji; Higaki, Katsumi; Martin, Nathaniel I.; Pieters, Roland J.; Ortiz Mellet, Carmen; Suzuki, Yoshiyuki 分享 收藏
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Probing the Inhibitor versus Chaperone Properties of sp2-Iminosugars towards Human β-Glucocerebrosidase: A Picomolar Chaperone for Gaucher Disease Mena-Barragan, Teresa; Isabel Garcia-Moreno, M.; Sevsek, Alen; Okazaki, Tetsuya; Nanba, Eiji; Higaki, Katsumi; Martin, Nathaniel I.; Pieters, Roland J.; Garcia Fernandez, Jose M.; Ortiz Mellet, Carmen 分享 收藏
Fluorinated Chaperone-β-Cyclodextrin Formulations for β-Glucocerebrosidase Activity Enhancement in Neuronopathic Gaucher Disease Isabel Garcia-Moreno, M.; de la Mata, Mario; Sanchez-Fernandez, Elena M.; Benito, Juan M.; Diaz-Quintana, Antonio; Fustero, Santos; Nanba, Eiji; Higaki, Katsumi; Sanchez-Alcazar, Jose A.; Garcia Fernandez, Jose M.; Ortiz Mellett, Carmen 分享 收藏
Fluorinated chaperone-β-cyclodextrin formulations for neuronopathic Gaucher disease Garcia Fernandez, Jose M.; Sanchez-Fernandez, Elena M.; de la Mata, Mario; Garcia Moreno, Maria I.; Benito, Juan M.; Nanba, Eiji; Suzuki, Yoshiyuki; Higaki, Katsumi; Sanchez-Alcazar, Jose A.; Ortiz Mellet, Carmen 分享 收藏
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Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study Narita, Aya; Shirai, Kentarou; Itamura, Shinji; Matsuda, Atsue; Ishihara, Akiko; Matsushita, Kumi; Fukuda, Chisako; Kubota, Norika; Takayama, Rumiko; Shigematsu, Hideo; Hayashi, Anri; Kumada, Tomohiro; Yuge, Kotaro; Watanabe, Yoriko; Kosugi, Saori; Nishida, Hiroshi; Kimura, Yukiko; Endo, Yusuke; Higaki, Katsumi; Nanba, Eiji; Nishimura, Yoko; Tamasaki, Akiko; Togawa, Masami; Saito, Yoshiaki; Maegaki, Yoshihiro; Ohno, Kousaku; Suzuki, Yoshiyuki 分享 收藏
Oxytocin for Male subjects with autism spectrum Disorder and comorbid intellectual Disabilities: a randomized Pilot study 催产素用于自闭症谱系障碍和共病智力障碍的男性受试者: 一项随机试点研究 Munesue, Toshio; Nakamura, Hiroyuki; Kikuchi, Mitsuru; Miura, Yui; Takeuchi, Noriyuki; Anme, Tokie; Nanba, Eiji; Adachi, Kaori; Tsubouchi, Kiyotaka; Sai, Yoshimichi; Miyamoto, Ken-ichi; Horike, Shin-ichi; Yokoyama, Shigeru; Nakatani, Hideo; Niida, Yo; Kosaka, Hirotaka; Minabe, Yoshio; Higashida, Haruhiro 分享 收藏
pH-Responsive Pharmacological Chaperones for Rescuing Mutant Glycosidases Mena-Barragan, Teresa; Narita, Aya; Matias, Dino; Tiscornia, Gustavo; Nanba, Eiji; Ohno, Kousaku; Suzuki, Yoshiyuki; Higaki, Katsumi; Garcia Fernandez, Jose Manuel; Mellet, Carmen Ortiz 分享 收藏
Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature Fujimoto, Masanobu; Sonoyama, Yuki Kawashima; Hamajima, Naoki; Hamajima, Takashi; Kumura, Yumiko; Miyahara, Naoki; Nishimura, Rei; Adachi, Kaori; Nanba, Eiji; Hanaki, Keiichi; Kanzaki, Susumu 分享 收藏
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