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收藏分享 收藏 分享 收藏 分享 收藏 Novel evaluation of pulmonary hypertension with chronic lung disease by perfusion SPECT/CT
Atsumi, Kenichiro; Hayashi, Hiroki; Nishima, Shunichi; Tanaka, Toru; Kashiwada, Takeru; Saito, Yoshinobu; Seike, Masahiro; Gemma, Akihiko; Kubota, Yoshiaki; Fukushima, Yoshimitsu; Kimura, Hiroshi 分享 收藏 Frequency and clinical features of hearing loss caused by STRC deletionsSTRC缺失引起的听力损失的频率和临床特征Yokota, Yoh; Moteki, Hideaki; Nishio, Shin-ya; Yamaguchi, Tomomi; Wakui, Keiko; Kobayashi, Yumiko; Ohyama, Kenji; Miyazaki, Hiromitsu; Matsuoka, Rina; Abe, Satoko; Kumakawa, Kozo; Takahashi, Masahiro; Sakaguchi, Hirofumi; Uehara, Natsumi; Ishino, Takashi; Kosho, Tomoki; Fukushima, Yoshimitsu; Usami, Shin-ichi 分享 收藏 Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five PatientsKawashima, Sayaka; Nakamura, Akie; Inoue, Takanobu; Matsubara, Keiko; Horikawa, Reiko; Wakui, Keiko; Takano, Kyoko; Fukushima, Yoshimitsu; Tatematsu, Toshi; Mizuno, Seiji; Tsubaki, Junko; Kure, Shigeo; Matsubara, Yoichi; Ogata, Tsutomu; Fukami, Maki; Kagami, Masayo 分享 收藏 Clinical and molecular analyses on two Japanese families with spinocerebellar ataxia type 23Kondo, Y.; Miyazaki, D.; Nakamura, K.; Sato, S.; Ohara, S.; Yamaguchi, T.; Ishikawa, M.; Wakui, K.; Kosho, T.; Fukushima, Y.; Sekijima, Y.; Yoshida, K. 分享 收藏 分享 收藏 分享 收藏 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndromeTsurusaki, Yoshinori; Okamoto, Nobuhiko; Ohashi, Hirofumi; Kosho, Tomoki; Imai, Yoko; Hibi-Ko, Yumiko; Kaname, Tadashi; Naritomi, Kenji; Kawame, Hiroshi; Wakui, Keiko; Fukushima, Yoshimitsu; Homma, Tomomi; Kato, Mitsuhiro; Hiraki, Yoko; Yamagata, Takanori; Yano, Shoji; Mizuno, Seiji; Sakazume, Satoru; Ishii, Takuma; Nagai, Toshiro; Shiina, Masaaki; Ogata, Kazuhiro; Ohta, Tohru; Niikawa, Norio; Miyatake, Satoko; Okada, Ippei; Mizuguchi, Takeshi; Doi, Hiroshi; Saitsu, Hirotomo; Miyake, Noriko; Matsumoto, Naomichi 分享 收藏 A response to: Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome. Which name is appropriate, Adducted Thumb-Clubfoot Syndrome or Ehlers-Danlos syndrome?Kosho, Tomoki; Miyake, Noriko; Mizumoto, Shuji; Hatamochi, Atsushi; Fukushima, Yoshimitsu; Yamada, Shuhei; Sugahara, Kazuyuki; Matsumoto, Naomichi 分享 收藏 分享 收藏 分享 收藏 Loss-of-Function Mutations of CHST14 in a New Type of Ehlers-Danlos SyndromeMiyake, Noriko; Kosho, Tomoki; Mizumoto, Shuji; Furuichi, Tatsuya; Hatamochi, Atsushi; Nagashima, Yoji; Arai, Eiichi; Takahashi, Kazuo; Kawamura, Rie; Wakui, Keiko; Takahashi, Jun; Kato, Hiroyuki; Yasui, Hiroshi; Ishida, Tadao; Ohashi, Hirofumi; Nishimura, Gen; Shiina, Masaaki; Saitsu, Hirotomo; Tsurusaki, Yoshinori; Doi, Hiroshi; Fukushima, Yoshimitsu; Ikegawa, Shiro; Yamada, Shuhei; Sugahara, Kazuyuki; Matsumoto, Naomichi 分享 收藏 Common variants in CASP3 confer susceptibility to Kawasaki diseaseOnouchi, Yoshihiro; Ozaki, Kouichi; Buns, Jane C.; Shimizu, Chisato; Hamada, Hiromichi; Honda, Takafumi; Terai, Masaru; Honda, Akihito; Takeuchi, Takashi; Shibuta, Shoichi; Suenaga, Tomohiro; Suzuki, Hiroyuki; Higashi, Kouji; Yasukawa, Kumi; Suzuki, Yoichi; Sasago, Kumiko; Kemmotsu, Yasushi; Takatsuki, Shinichi; Saji, Tsutomu; Yoshikawa, Tetsushi; Nagai, Toshiro; Hamamoto, Kunihiro; Kishi, Fumio; Ouchi, Kazunobu; Sato, Yoshitake; Newburger, Jane W.; Baker, Annette L.; Shulman, Stanford T.; Rowley, Anne H.; Yashiro, Mayumi; Nakamura, Yoshikazu; Wakui, Keiko; Fukushima, Yoshimitsu; Fujino, Akihiro; Tsunoda, Tatsuhiko; Kawasaki, Tomisaku; Hata, Akira; Nakamura, Yusuke; Tanaka, Toshihiro 分享 收藏 分享 收藏 Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndromeKaname, Tadashi; Yanagi, Kumiko; Chinen, Yasutsugu; Makita, Yoshio; Okamoto, Nobuhiko; Maehara, Hiroki; Owan, Ichiro; Kanaya, Fuminori; Kubota, Yoshiaki; Oike, Yuichi; Yamamoto, Toshiyuki; Kurosawa, Kenji; Fukushima, Yoshimitsu; Bohring, Axel; Opitz, John M.; Yoshiura, Ko-ichiro; Niikawa, Norio; Naritomi, Kenji 分享 收藏 分享 收藏 Phenotypic spectrum of charge syndrome with CHD7 mutationsAramaki, M; Udaka, T; Kosaki, R; Makita, Y; Okamoto, N; Yoshihashi, H; Oki, H; Nanao, K; Moriyama, N; Oku, S; Hasegawa, T; Takahashi, T; Fukushima, Y; Kawame, H; Kosaki, K 分享 收藏 
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