Výsledky vyhledávání - Hiroshi Kawame

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  1. 1
    Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment

    Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment Autor Tomoki Kosho, Tomohiko Nakamura, Hiroshi Kawame, Atsushi Baba, Masanori Tamura, Yoshimitsu Fukushima

    Vydáno 2006
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    Artigo
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  2. 2
    Surgical intervention for esophageal atresia in patients with trisomy 18

    Surgical intervention for esophageal atresia in patients with trisomy 18 Autor Eriko Nishi, Satoshi Takamizawa, Kenji Iio, Yasumasa Yamada, Katsumi Yoshizawa, Tomoko Hatata, Takehiko Hiroma, Seiji Mizuno, Hiroshi Kawame, Yoshimitsu Fukushima, Tomohiko Nakamura, Tomoki Kosho

    Vydáno 2013
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    Artigo
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  3. 3
    Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

    Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia Autor Tetsuya Niihori, Yoko Aoki, Hirofumi Ohashi, Kenji Kurosawa, Tatsuro Kondoh, Satoshi Ishikiriyama, Hiroshi Kawame, Hotaka Kamasaki, Tsutomu Yamanaka, Fumio Takada, Kimio Nishio, Masahiro Sakurai, Hiroshi Tamai, Tatsuro Nagashima, Yoichi Suzuki, Shigeo Kure, Kunihiro Fujii, Masue Imaizumi, Yoichi Matsubara

    Vydáno 2005
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    Artigo
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  4. 4
    Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies

    Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies Autor Shoko Komatsuzaki, Yoko Aoki, Tetsuya Niihori, Nobuhiko Okamoto, Raoul C. M. Hennekam, Saskia Hopman, Hirofumi Ohashi, Seiji Mizuno, Yoriko Watanabe, Hotaka Kamasaki, Ikuko Kondo, Nobuko Moriyama, Kenji Kurosawa, Hiroshi Kawame, Ryuhei Okuyama, Masue Imaizumi, Takeshi Rikiishi, Shigeru Tsuchiya, Shigeo Kure, Yoichi Matsubara

    Vydáno 2010
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    Artigo
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  5. 5
    Recurrent de novo <i>MAPK8IP3</i> variants cause neurological phenotypes

    Recurrent de novo <i>MAPK8IP3</i> variants cause neurological phenotypes Autor Shinya Iwasawa, Kumiko Yanagi, Atsuo Kikuchi, Yasuko Kobayashi, Kazuhiro Haginoya, Hiroshi Matsumoto, Kenji Kurosawa, Masayuki Ochiai, Yasunari Sakai, Atsushi Fujita, Noriko Miyake, Tetsuya Niihori, Matsuyuki Shirota, Ryo Funayama, Shigeaki Nonoyama, Shouichi Ohga, Hiroshi Kawame, Keiko Nakayama, Yoko Aoki, Naomichi Matsumoto, Tadashi Kaname, Yoichi Matsubara, Wataru Shoji, Shigeo Kure

    Vydáno 2019
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  6. 6
    Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

    Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome Autor Yoko Aoki, Tetsuya Niihori, Toshihiro Banjo, Nobuhiko Okamoto, Seiji Mizuno, Kenji Kurosawa, Tsutomu Ogata, Fumio Takada, Michihiro Yano, Toru Ando, Tadataka Hoshika, Christopher Barnett, Hirofumi Ohashi, Hiroshi Kawame, Tomonobu Hasegawa, Takahiro Okutani, Tatsuo Nagashima, Satoshi Hasegawa, Ryo Funayama, Takeshi Nagashima, Keiko Nakayama, Shin-ichi Inoue, Yusuke Watanabe, Toshihiko Ogura, Yoichi Matsubara

    Vydáno 2013
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    Artigo
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  7. 7
    Clinical correlations of mutations affecting six components of the <scp>SWI</scp>/<scp>SNF</scp> complex: Detailed description of 21 patients and a review of the literature

    Clinical correlations of mutations affecting six components of the <scp>SWI</scp>/<scp>SNF</scp> complex: Detailed description of 21 patients and a review of the literature Autor Tomoki Kosho, Nobuhiko Okamoto, Hirofumi Ohashi, Yoshinori Tsurusaki, Yoko Imai, Yumiko Hibi‐Ko, Hiroshi Kawame, Tomomi Homma, Saori Tanabe, Mitsuhiro Kato, Yoko Hiraki, Takanori Yamagata, Shoji Yano, Satoru Sakazume, Takuma Ishii, Toshiro Nagai, Tohru Ohta, Norio Niikawa, Seiji Mizuno, Tadashi Kaname, Kenji Naritomi, Yoko Narumi, Keiko Wakui, Yoshimitsu Fukushima, Satoko Miyatake, Takeshi Mizuguchi, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto

    Vydáno 2013
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    Revisão
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  8. 8
    Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan

    Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan Autor Kinuko Ohneda, Yoichi Suzuki, Yohei Hamanaka, Shu Tadaka, Muneaki Shimada, Junko Hasegawa‐Minato, Masanobu Takahashi, Nobuo Fuse, Fuji Nagami, Hiroshi Kawame, Tomoko Kobayashi, Yumi Yamaguchi‐Kabata, Kengo Kinoshita, Tomohiro Nakamura, Soichi Ogishima, Kazuki Kumada, Hisaaki Kudo, Shinichi Kuriyama, Yoko Izumi, Ritsuko Shimizu, Mikako Tochigi, Tokiwa Motonari, Hideki Tokunaga, Atsuo Kikuchi, Atsushi Masamune, Yoko Aoki, Chikashi Ishioka, Takanori Ishida, Masayuki Yamamoto

    Vydáno 2025
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  9. 9
    Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

    Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion Autor Naohiro Kurotaki, Naoki Harada, Osamu Shimokawa, Noriko Miyake, Hiroshi Kawame, Kimiaki Uetake, Yoshio Makita, Tatsuro Kondoh, Tsutomu Ogata, Tomoko Hasegawa, Toshiro Nagai, Takao Ozaki, Mayumi Touyama, Ruthie Shenhav, Hirofumi Ohashi, Līvija Medne, Takashi Shiihara, Shigeyuki Ohtsu, Zen-ichiro Kato, Nobuhiko Okamoto, Junji Nishimoto, Dorit Lev, Yoko Miyoshi, Satoshi Ishikiriyama, Tohru Sonoda, Satoru Sakazume, Yoshimitsu Fukushima, Kenji Kurosawa, Jan‐Fang Cheng, Koh-ichiro Yoshiura, Tohru Ohta, Tatsuya Kishino, Norio Niikawa, Naomichi Matsumoto

    Vydáno 2003
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  10. 10
    Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

    Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals Autor Masao Nagasaki, Jun Yasuda, Fumiki Katsuoka, Naoki Nariai, Kaname Kojima, Yosuke Kawai, Yumi Yamaguchi‐Kabata, Junji Yokozawa, Inaho Danjoh, Sakae Saito, Yukuto Sato, Takahiro Mimori, Kaoru Tsuda, Rumiko Saito, Xiaoqing Pan, Satoshi Nishikawa, Shin Ito, Yoko Kuroki, Osamu Tanabe, Nobuo Fuse, Shinichi Kuriyama, Hideyasu Kiyomoto, Atsushi Hozawa, Naoko Minegishi, James Douglas Engel, Kengo Kinoshita, Shigeo Kure, Nobuo Yaegashi, Akito Tsuboi, Fuji Nagami, Hiroshi Kawame, Hiroaki Tomita, Ichiro Tsuji, Jun Nakaya, Junichi Sugawara, Kichiya Suzuki, Masahiro Kikuya, Michiaki Abe, Naoki Nakaya, Noriko Osumi, Riu Yamashita, Soichi Ogishima, Takako Takai, Teiji Tominaga, Yasuyuki Taki, Yoichi Suzuki, Masayuki Yamamoto

    Vydáno 2015
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  11. 11
    Study Profile of the Tohoku Medical Megabank Community-Based Cohort Study

    Study Profile of the Tohoku Medical Megabank Community-Based Cohort Study Autor Atsushi Hozawa, Kozo Tanno, Naoki Nakaya, Tomohiro Nakamura, Naho Tsuchiya, Takumi Hirata, Akira Narita, Mana Kogure, Kotaro Nochioka, Ryohei Sasaki, Nobuyuki Takanashi, Kotaro Otsuka, Kiyomi Sakata, Shinichi Kuriyama, Masahiro Kikuya, Osamu Tanabe, Junichi Sugawara, Kichiya Suzuki, Yoichi Suzuki, Eiichi Kodama, Nobuo Fuse, Hideyasu Kiyomoto, Hiroaki Tomita, Akira Uruno, Yohei Hamanaka, Hirohito Metoki, Mami Ishikuro, Taku Obara, Tomoko Kobayashi, Kazuyuki Kitatani, Takako Takai‐Igarashi, Soichi Ogishima, Mamoru Satoh, Hideki Ohmomo, Akito Tsuboi, Shinichi Egawa, Tadashi Ishii, Kiyoshi Ito, Sadayoshi Ito, Yasuyuki Taki, Naoko Minegishi, Naoto Ishii, Masao Nagasaki, Kazuhiko Igarashi, S. Koshiba, Ritsuko Shimizu, Gen Tamiya, Keiko Nakayama, Hozumi Motohashi, Jun Yasuda, Atsushi Shimizu, Tsuyoshi Hachiya, Yuh Shiwa, Teiji Tominaga, Hiroshi Tanaka, Kotaro Oyama, Ryoichi Tanaka, Hiroshi Kawame, Akimune Fukushima, Yasushi Ishigaki, Tomoharu Tokutomi, Noriko Osumi, Tadao Kobayashi, Fuji Nagami, Hiroaki Hashizume, Tomohiko Arai, Yoshio Kawaguchi, Shinichi Higuchi, Masaki Sakaida, Ryujin Endo, Satoshi Nishizuka, Ichiro Tsuji, Jiro Hitomi, Motoyuki Nakamura, Kuniaki Ogasawara, Nobuo Yaegashi, Kengo Kinoshita, Shigeo Kure, Akio Sakai, Seiichiro Kobayashi, Kenji Sobue, Makoto Sasaki, Masayuki Yamamoto

    Vydáno 2020
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