幹細胞の多様性: 組織幹細胞, ES細胞, mGS細胞 von 平家, 俊男

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自己炎症性疾患の新展開 von 西小森, 隆太, 中川, 権史, 粟屋, 美絵, 河合, 朋樹, 八角, 高裕, 平家, 俊男

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小児がん経験者の12歳男児に対する医教連携による自立支援 von 小林健一郎, 山本美菜, 辰巳明子, 芝香織, 澤田恵美, 川崎祐美子, 毎原敏郎, 宇佐美郁哉, 遠藤克俊, 平家俊男

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胎児水腫と新生児期の胆汁うっ滞性肝機能障害を認め，6歳でメバロン酸キナーゼ欠損症と診断できた女児例 von 山下, 由理子, 松本, 真輔, 平本, 龍吾, 小森, 功夫, 田中, 孝之, 西小森, 隆太, 平家, 俊男, 梅津, 守一郎, 乾, あやの

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13.全身型若年性特発性関節炎の経過中にEBV,CMVが原因と考えられる胃潰瘍,腸炎を合併した3歳女児例(一般演題,第38回日本小児内視鏡研究会)... von 日衛嶋, 栄太郎, 窪田, 博仁, 八角, 高裕, 西小森, 隆太, 仲瀬, 裕志, 平家, 俊男

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Aicardi-Goutières Syndrome Is Caused by IFIH1 Mutations von Oda, Hirotsugu, Nakagawa, Kenji, Abe, Junya, Awaya, Tomonari, Funabiki, Masahide, Hijikata, Atsushi, Nishikomori, Ryuta, Funatsuka, Makoto, Ohshima, Yusei, Sugawara, Yuji, Yasumi, Takahiro, Kato, Hiroki, Shirai, Tsuyoshi, Ohara, Osamu, Fujita, Takashi, Heike, Toshio

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日本における高IgD症候群の診断と展望 von 酒井, 秀政, 平家, 俊男

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酢酸オクトレオチド投与が奏効しQOLが著しく改善した終末期癌患者の1例 von 内藤, 正規, 土橋, 誠一郎, 平井, 俊男, 西, 八嗣, 八十川, 要平, 渡邊, 昌彦

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A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome von Takeda, Yukiko, Ueki, Masahiro, Matsuhiro, Junpei, Walinda, Erik, Tanaka, Takayuki, Yamada, Masafumi, Fujita, Hiroaki, Takezaki, Shunichiro, Kobayashi, Ichiro, Tamaki, Sakura, Nagata, Sanae, Miyake, Noriko, Matsumoto, Naomichi, Osawa, Mitsujiro, Yasumi, Takahiro, Heike, Toshio, Ohtake, Fumiaki, Saito, Megumu K, Toguchida, Junya, Takita, Junko, Ariga, Tadashi, Iwai, Kazuhiro

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The intracellular Ca2+ concentration is elevated in cardiomyocytes differentiated from hiPSCs derived from a Duchenne muscular dystrophy patient von Tsurumi, Fumitoshi, Baba, Shiro, Yoshinaga, Daisuke, Umeda, Katsutsugu, Hirata, Takuya, Takita, Junko, Heike, Toshio

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クライオパイリン関連周期性発熱症候群に対するヒト化抗IL-1βモノクローナル抗体製剤カナキヌマブの効果 von 横田, 俊平, 菊地, 雅子, 野澤, 智, 木澤, 敏毅, 金髙, 太一, 宮前, 多佳子, 森, 雅亮, 西小森, 隆太, 高田, 英俊, 平家, 俊男, 原, 寿郎, 今川, 智之

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P1-27　多施設共同研究によるA20ハプロ不全症の国内症例の病態解析 von 大西, 秀典, 門脇, 朋範, 川本, 典生, 堀, 友博, 西村, 謙一, 小林, 千恵, 重村, 倫成, 緒方, 昌平, 井上, 祐三朗, 河合, 朋樹, 日衛嶋, 栄太郎, 高木, 正稔, 今井, 耕輔, 西小森, 隆太, 伊藤, 秀一, 平家, 俊男, 小原, 收, 森尾, 友宏, 深尾, 敏幸, 金兼, 弘和

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A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity von Shibata, Hirofumi, Nakajima, Daisuke, Konno, Ryo, Hijikata, Atsushi, Higashiguchi, Motoko, Nihira, Hiroshi, Shimodera, Saeko, Miyamoto, Takayuki, Nishitani-Isa, Masahiko, Hiejima, Eitaro, Izawa, Kazushi, Takita, Junko, Heike, Toshio, Okamura, Ken, Ohnishi, Hidenori, Ishimura, Masataka, Okada, Satoshi, Yamashita, Motoi, Morio, Tomohiro, Kanegane, Hirokazu, Imai, Kohsuke, Nakamura, Yasuko, Nonoyama, Shigeaki, Uchiyama, Toru, Onodera, Masafumi, Nishikomori, Ryuta, Ohara, Osamu, Kawashima, Yusuke, Yasumi, Takahiro

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Integrative network analysis reveals biological pathways associated with Williams syndrome von Kimura, Ryo, Swarup, Vivek, Tomiwa, Kiyotaka, Gandal, Michael J., Parikshak, Neelroop N., Funabiki, Yasuko, Nakata, Masatoshi, Awaya, Tomonari, Kato, Takeo, Iida, Kei, Okazaki, Shin, Matsushima, Kanae, Kato, Toshihiro, Murai, Toshiya, Heike, Toshio, Geschwind, Daniel H., Hagiwara, Masatoshi

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Dysregulation of the oxytocin receptor gene in Williams syndrome von Kimura, Ryo, Tomiwa, Kiyotaka, Inoue, Ryo, Suzuki, Shiho, Nakata, Masatoshi, Awaya, Tomonari, Kato, Takeo, Okazaki, Shin, Heike, Toshio, Hagiwara, Masatoshi

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Integrated DNA methylation analysis reveals a potential role for ANKRD30B in Williams syndrome von Kimura, Ryo, Lardenoije, Roy, Tomiwa, Kiyotaka, Funabiki, Yasuko, Nakata, Masatoshi, Suzuki, Shiho, Awaya, Tomonari, Kato, Takeo, Okazaki, Shin, Murai, Toshiya, Heike, Toshio, Rutten, Bart P F, Hagiwara, Masatoshi

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The effects of cardioactive drugs on cardiomyocytes derived from human induced pluripotent stem cells von Yokoo, Noritaka, Baba, Shiro, Kaichi, Shinji, Niwa, Akira, Mima, Takahiro, Doi, Hiraku, Yamanaka, Shinya, Nakahata, Tatsutoshi, Heike, Toshio

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CD146 is a potential immunotarget for neuroblastoma von Obu, Satoshi, Umeda, Katsutsugu, Ueno, Hiroo, Sonoda, Mari, Tasaka, Keiji, Ogata, Hideto, Kouzuki, Kagehiro, Nodomi, Seishiro, Saida, Satoshi, Kato, Itaru, Hiramatsu, Hidefumi, Okamoto, Tatsuya, Ogawa, Eri, Okajima, Hideaki, Morita, Ken, Kamikubo, Yasuhiko, Kawaguchi, Koji, Watanabe, Kenichiro, Iwafuchi, Hideto, Yagyu, Shigeki, Iehara, Tomoko, Hosoi, Hajime, Nakahata, Tatsutoshi, Adachi, Souichi, Uemoto, Shinji, Heike, Toshio, Takita, Junko

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Phenotype-Based High-Throughput Classification of Long QT Syndrome Subtypes Using Human Induced Pluripotent Stem Cells von Yoshinaga, Daisuke, Baba, Shiro, Makiyama, Takeru, Shibata, Hirofumi, Hirata, Takuya, Akagi, Kentaro, Matsuda, Koichi, Kohjitani, Hirohiko, Wuriyanghai, Yimin, Umeda, Katsutsugu, Yamamoto, Yuta, Conklin, Bruce R., Horie, Minoru, Takita, Junko, Heike, Toshio

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P9-17  増殖性関節滑膜炎を伴った抗MDA5抗体陽性若年性皮膚筋炎の一例 von 柴田, 洋史, 河合, 朋樹, 八角, 高裕, 西小森, 隆太, 平家, 俊男

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