Výsledky vyhledávání - Yoriko Watanabe

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  1. 1
    Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD

    Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD Autor Yoriko Watanabe, D. Woodrow Benson, S. Yano, Teiji Akagi, Makoto Yoshino, Jeff Murray

    Vydáno 2002
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    Carta
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  2. 2
    Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan

    Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan Autor Jun Kido, Johannes Häberle, Keishin Sugawara, Toju Tanaka, Masayoshi Nagao, Takaaki Sawada, Yoichi Wada, Chikahiko Numakura, Kei Murayama, Yoriko Watanabe, Kanako Kojima‐Ishii, Hideo Sasai, Kiyotaka Kosugiyama, Kimitoshi Nakamura

    Vydáno 2022
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    Artigo
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  3. 3
    Mitochondrial Complex III Deficiency Caused by a Homozygous<i>UQCRC2</i>Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation

    Mitochondrial Complex III Deficiency Caused by a Homozygous<i>UQCRC2</i>Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation Autor Noriko Miyake, Shoji Yano, Chika Sakai, Hideyuki Hatakeyama, Yuichi Matsushima, Masaaki Shiina, Yoriko Watanabe, James Bartley, José E. Abdenur, Raymond Wang, Richard Chang, Yoshinori Tsurusaki, Hiroshi Doi, Mitsuko Nakashima, Hirotomo Saitsu, Kazuhiro Ogata, Yu-ichi Goto, Naomichi Matsumoto

    Vydáno 2012
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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
    De novo <i><scp>KCNT</scp>1</i> mutations in early‐onset epileptic encephalopathy

    De novo <i><scp>KCNT</scp>1</i> mutations in early‐onset epileptic encephalopathy Autor Chihiro Ohba, Mitsuhiro Kato, Nobuya Takahashi, Hitoshi Osaka, Takashi Shiihara, Jun Tohyama, Shin Nabatame, Junji Azuma, Yuji Fujii, Munetsugu Hara, Reimi Tsurusawa, Takahito Inoue, Reina Ogata, Yoriko Watanabe, Noriko Togashi, Hirofumi Kodera, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Fumiaki Tanaka, Hirotomo Saitsu, Naomichi Matsumoto

    Vydáno 2015
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    Artigo
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  6. 6
    Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate

    Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate Autor Alexandre R. Vieira, Joseph R. Avila, Sandra Daack‐Hirsch, Ecaterina Dragan, Têmis Maria Félix, Fedik Rahimov, Jill Harrington, Rebecca R. Schultz, Yoriko Watanabe, Marla Johnson, Jennifer S. Fang, Sarah O’Brien, Iêda M. Orioli, Eduardo E. Castilla, David Fitzpatrick, Rulang Jiang, Mary L. Marazita, Jeffrey C. Murray

    Vydáno 2005
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    Artigo
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  7. 7
    Direct Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate

    Direct Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate Autor Alexandre R. Vieira, Joseph R. Avila, Sandra Daack‐Hirsch, Ecaterina Dragan, Têmis Maria Félix, Fedik Rahimov, Jill Harrington, Rebecca R. Schultz, Yoriko Watanabe, Marla Johnson, Jennifer S. Fang, Sarah O’Brien, Iêda M. Orioli, Eduardo E. Castilla, David Fitzpatrick, Rulang Jiang, Mary L. Marazita, Jeffrey C. Murray

    Vydáno 2005
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    Artigo
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  8. 8
    Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study

    Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study Autor Aya Narita, Kentarou Shirai, Shinji Itamura, Atsue Matsuda, Akiko Ishihara, Kumi Matsushita, Chisako Fukuda, Norika Kubota, Rumiko Takayama, Hideo Shigematsu, Anri Hayashi, Tomohiro Kumada, Kotaro Yuge, Yoriko Watanabe, Saori Kosugi, Hiroshi Nishida, Yukiko Kimura, Yusuke Endo, Katsumi Higaki, Eiji Nanba, Yoko Nishimura, Akiko Tamasaki, Masami Togawa, Yoshiaki Saito, Yoshihiro Maegaki, Kousaku Ohno, Yoshiyuki Suzuki

    Vydáno 2016
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    Artigo
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  9. 9
    Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

    Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes Autor Shinji Kondo, Brian C. Schutte, Rebecca J. Richardson, Bryan C. Bjork, Alexandra S. Knight, Yoriko Watanabe, Emma Howard, Renata Lúcia Leite Ferreira de Lima, Sandra Daack‐Hirsch, Achim Sander, Donna M. McDonald‐McGinn, Elaine H. Zackai, Edward J. Lammer, Arthur S. Aylsworth, Holly H Ardinger, Andrew C. Lidral, Barbara R. Pober, Lina M. Moreno, Mauricio Arcos‐Burgos, Consuelo Valencia, Claude Houdayer, Michel Bahuau, Danilo Moretti‐Ferreira, Antônio Richieri‐Costa, Michael J. Dixon, Jeffrey C. Murray

    Vydáno 2002
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    Artigo
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  10. 10
    Digenic mutations in <i>ALDH2</i> and <i>ADH5</i> impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome

    Digenic mutations in <i>ALDH2</i> and <i>ADH5</i> impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome Autor Yasuyoshi Oka, Motoharu Hamada, Yuka Nakazawa, Hideki Muramatsu, Yusuke Okuno, Koichiro Higasa, Mayuko Shimada, Honoka Takeshima, Katsuhiro Hanada, Taichi Hirano, Toshiro Kawakita, Hirotoshi Sakaguchi, Takuya Ichimura, Shuichi Ozono, Kotaro Yuge, Yoriko Watanabe, Yuko Kotani, Mutsumi Yamane, Yumiko Kasugai, Miyako Tanaka, Takayoshi Suganami, Shinichiro Nakada, Norisato Mitsutake, Yuichiro Hara, Kohji Kato, Seiji Mizuno, Noriko Miyake, Yosuke Kawai, Katsushi Tokunaga, Masao Nagasaki, Seiji Kito, Keiichi Isoyama, Masafumi Onodera, Hideo Kaneko, Naomichi Matsumoto, Fumihiko Matsuda, Keitaro Matsuo, Yoshiyuki Takahashi, Tomoji Mashimo, Seiji Kojima, Tomoo Ogi

    Vydáno 2020
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    Artigo
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  11. 11
    <i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome

    <i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome Autor Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, Seiji Mizuno, Tsutomu Ogata, Toshiro Nagai, Tomoki Kosho, Hirofumi Ohashi, Mitsuhiro Kato, Goro Sasaki, Hiroyo Mabe, Yoriko Watanabe, Makoto Yoshino, Toyojiro Matsuishi, Jun‐ichi Takanashi, Vorasuk Shotelersuk, Mustafa Tekin, Nobuhiko Ochi, Masaya Kubota, Naoko Ito, Kenji Ihara, Toshiro Hara, Hidefumi Tonoki, Tohru Ohta, Kayoko Saito, Mari Matsuo, Mari Urano, Takashi Enokizono, Astushi Sato, Hiroyuki Tanaka, Atsushi Ogawa, Takako Fujita, Yoko Hiraki, Sachiko Kitanaka, Yoichi Matsubara, Toshio Makita, Masataka Taguri, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Ko‐ichiro Yoshiura, Naomichi Matsumoto, Norio Niikawa

    Vydáno 2013
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    Artigo
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  12. 12
    Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy

    Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy Autor Masamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, Akihiko Ishiyama, Hirofumi Komaki, Takashi Saito, Eri Takeshita, Yuko Shimizu‐Motohashi, Kazuhiro Haginoya, Tomoko Kobayashi, Tomohide Goto, Yu Tsuyusaki, Mizue Iai, Kenji Kurosawa, Hitoshi Osaka, Jun Tohyama, Yu Kobayashi, Nobuhiko Okamoto, Yume Suzuki, Satoko Kumada, Kenji Inoue, Hideaki Mashimo, Atsuko Arisaka, Ichiro Kuki, Harumi Saijo, Kenji Yokochi, Mitsuhiro Kato, Yuji Inaba, Yuko Gomi, Shinji Saitoh, Kentaro Shirai, Masafumi Morimoto, Yuishin Izumi, Yoriko Watanabe, Shin-Ichiro Nagamitsu, Yasunari Sakai, Shinobu Fukumura, Kazuhiro Muramatsu, Tomomi Ogata, Keitaro Yamada, Keiko Ishigaki, Kyoko Hirasawa, Konomi Shimoda, Manami Akasaka, Kosuke Kohashi, Takafumi Sakakibara, Masashi Ikuno, Noriko Sugino, Takahiro Yonekawa, Semra Gürsoy, Tayfun Çinleti, Chong Ae Kim, Keng Wee Teik, Chan Mei Yan, Muzhirah Haniffa, Chihiro Ohba, Shuuichi Ito, Hirotomo Saitsu, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Noriko Miyake, Naomichi Matsumoto

    Vydáno 2022
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