檢索結果 - Yoichi Matsubara
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Recent advances in RASopathies 由 Yoko Aoki, Tetsuya Niihori, Shinichi Inoue, Yoichi Matsubara
出版 2015Revisão -
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Molecular Cloning and Nucleotide Sequence of cDNAs Encoding the Precursors of Rat Long Chain Acyl-Coenzyme A, Short Chain Acyl-Coenzyme A, and Isovaleryl-Coenzyme A Dehydrogenases 由 Yoichi Matsubara, Yasuhiro Indo, Etsuo Naito, H Ozasa, Robin Glassberg, Jerry Vockley, Yasuyuki Ikeda, Jan P. Kraus, Kay Tanaka
出版 1989Artigo -
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TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia 由 Tsutomu Ogata, Tetsuya Niihori, Noriko Tanaka, Masahiko Kawai, Takeshi Nagashima, Ryo Funayama, Keiko Nakayama, Shinichi Nakashima, Fumiko Kato, Maki Fukami, Yoko Aoki, Yoichi Matsubara
出版 2014Artigo -
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Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness 由 Takayuki Kudo, Shigeo Kure, Katsuhisa Ikeda, An Ping Xia, Yukio Katori, Masaaki Suzuki, Kanako Kojima, Akiko Ichinohe, Yoichi Suzuki, Yoko Aoki, Toshimitsu Kobayashi, Yoichi Matsubara
出版 2003Artigo -
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Hepatocyte transplantation using a living donor reduced graft in a baby with ornithine transcarbamylase deficiency: A novel source of hepatocytes 由 Shin Enosawa, Reiko Horikawa, Akiko Yamamoto, Seisuke Sakamoto, Takanobu Shigeta, Shunsuke Nosaka, Junichiro Fujimoto, Akito Tanoue, Kazuaki Nakamura, Akihiro Umezawa, Yoichi Matsubara, Akira Matsui, Mureo Kasahara
出版 2013Carta -
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Long-Term Treatment and Diagnosis of Tetrahydrobiopterin-Responsive Hyperphenylalaninemia with a Mutant Phenylalanine Hydroxylase Gene 由 Haruo Shintaku, Shigeo Kure, Toshihiro Ohura, Yoshiyuki Okano, Misao Ohwada, Naruji Sugiyama, Nobuo Sakura, Ichiro Yoshida, Makoto Yoshino, Yoichi Matsubara, Ken Suzuki, Kikumaro Aoki, Teruo Kitagawa
出版 2003Artigo -
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The Fetal Brain Neurosonography in Trisomy 21: the Seagull Sign and Thinned Subplate 由 Ritsuko Pooh, Megumi Machida, Kohtaro Uenishi, E.Q. Barreto, Isabella Yi Man Wah, Liona C. Poon, Kyoko Itoh, Takako Nakamura, Hideaki Chiyo, Hiroyasu Ohashi, Masayoshi Takeda, Osamu Shimokawa, Yoichi Matsubara
出版 2025Artigo -
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Exome sequencing reveals that the CYP1B1 and FOXC1 genes are mainly responsible for childhood glaucoma in Japanese patients 由 Nobuo Fuse, Masae Kimura, Ai Shimizu, Teruhiko Hamanaka, Makoto Nakamura, Nobuo Ishida, Hiroshi Sakai, Yoko Ikeda, Kazuhiko Mori, Atsushi Endo, Masao nagasaki, Fumiki Katsuoka, Jun Yasuda, Yoichi Matsubara, Toru Nakazawa, Masayuki Yamamoto
出版 2023Pré-impressão -
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Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthma 由 Koichi Hasegawa, Mayumi Tamari, Chenchen Shao, Makiko Shimizu, Naomi Takahashi, Xiao‐Quan Mao, Akiko Yamasaki, Fumiaki Kamada, Satoru Doi, Hiroshi Fujiwara, Akihiko Miyatake, Kimie Fujita, Gen Tamura, Yoichi Matsubara, Taro Shirakawa, Yoichi Suzuki
出版 2004Artigo -
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Identical<i>NR5A1</i>Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues 由 Maki Igarashi, Kei Takasawa, Akiko Hakoda, Junko Kanno, Shuji Takada, Mami Miyado, Takashi Baba, Ken-ichirou Morohashi, Toshihiro Tajima, Kenichiro Hata, Kazuhiko Nakabayashi, Yoichi Matsubara, Ryohei Sekido, Tsutomu Ogata, Kenichi Kashimada, Maki Fukami
出版 2016Artigo -
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Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes 由 Akiharu Kubo, Takashi Sasaki, Hisato Suzuki, Aiko Shiohama, Satomi Aoki, Showbu Sato, Harumi Fujita, Noriko Ono, Noriko Umegaki‐Arao, Tomoko Kawai, Kazuhiko Nakabayashi, Kenichiro Hata, Daisuke Yamada, Yoichi Matsubara, Kenjiro Kosaki, Masayuki Amagai
出版 2019Artigo -
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Seasonal trends of blood pressure during pregnancy in Japan: the Babies and their Parents' Longitudinal Observation in Suzuki Memorial Hospital in Intrauterine Period study 由 Hirohito Metoki, Takayoshi Ohkubo, Yumiko Watanabe, M Nishimura, Yurie Sato, Maiko Kawaguchi, Azusa Hara, Takuo Hirose, Taku Obara, Kei Asayama, Masahiro Kikuya, Katsuyo Yagihashi, Yoichi Matsubara, Kunihiro Okamura, Shigeru Mori, Masafumi Noda, Yutaka Imai
出版 2008Artigo -
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Next‐generation sequencing for patients with non‐obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations 由 Shigeru Nakamura, Mami Miyado, Kazuki Saito, Momori Katsumi, Akinori Nakamura, Y. Kobori, Yoko Tanaka, Hiromichi Ishikawa, A. Yoshida, Hiroshi Okada, Kenichiro Hata, Kazuhiko Nakabayashi, K. Okamura, Hiroko Ogata, Yoichi Matsubara, Tsutomu Ogata, Hideo Nakai, Maki Fukami
出版 2017Artigo -
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Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 由 Tetsuya Niihori, Meri Ouchi‐Uchiyama, Yoji Sasahara, Takashi Kaneko, Yoshiko Hashii, Masahiro Irie, Atsushi Satō, Yuka Saito‐Nanjo, Ryo Funayama, Takeshi Nagashima, Shin‐ichi Inoue, Keiko Nakayama, Keiichi Ozono, Shigeo Kure, Yoichi Matsubara, Masue Imaizumi, Yoko Aoki
出版 2015Artigo
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Noonan syndrome
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