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收藏Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia
Hasegawa, Setsuko; Kumada, Satoko; Tanuma, Naoyuki; Tsuji-Hosokawa, Atsumi; Kashimada, Ayako; Mizuno, Tomoko; Moriyama, Kengo; Sugawara, Yuji; Shirai, Ikuko; Miyata, Yohane; Nishida, Hiroya; Mashimo, Hideaki; Hasegawa, Takeshi; Hosokawa, Takatoshi; Hisakawa, Hiroaki; Uematsu, Mitsugu; Fujine, Akio; Miyata, Rie; Sakuma, Hiroshi; Kashimada, Kenichi; Imai, Kohsuke; Morio, Tomohiro; Hayashi, Masaharu; Mizutani, Shuki; Takagi, Masatoshi
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收藏De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies
Hamanaka, Kohei; Sugawara, Yuji; Shimoji, Takeyoshi; Nordtveit, Tone Irene; Kato, Mitsuhiro; Nakashima, Mitsuko; Saitsu, Hirotomo; Suzuki, Toshimitsu; Yamakawa, Kazuhiro; Aukrust, Ingvild; Houge, Gunnar; Mitsuhashi, Satomi; Takata, Atsushi; Iwama, Kazuhiro; Alkanaq, Ahmed; Fujita, Atsushi; Imagawa, Eri; Mizuguchi, Takeshi; Miyake, Noriko; Miyatake, Satoko; Matsumoto, Naomichi
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收藏De novo PHACTR1 mutations in West syndrome and their pathophysiological effects
Hamada, Nanako; Ogaya, Shunsuke; Nakashima, Mitsuko; Nishijo, Takuma; Sugawara, Yuji; Iwamoto, Ikuko; Ito, Hidenori; Maki, Yuki; Shirai, Kentaro; Baba, Shimpei; Maruyama, Koichi; Saitsu, Hirotomo; Kato, Mitsuhiro; Matsumoto, Naomichi; Momiyama, Toshihiko; Nagata, Koh-ichi
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收藏Aicardi-Goutieres Syndrome Is Caused by IFIH1 Mutations
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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