Výsledky vyhledávání - Toshifumi Suzuki
- Zobrazuji výsledky 1 - 5 z 5
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De novo SOX11 mutations cause Coffin–Siris syndrome Autor Yoshinori Tsurusaki, Eriko Koshimizu, Hirofumi Ohashi, Shubha R. Phadke, Ikuyo Kou, Masaaki Shiina, Toshifumi Suzuki, Nobuhiko Okamoto, Shintaro Imamura, Michiaki Yamashita, Satoshi Watanabe, Koh-ichiro Yoshiura, Hirofumi Kodera, Satoko Miyatake, Mitsuko Nakashima, Hirotomo Saitsu, Kazuhiro Ogata, Shiro Ikegawa, Noriko Miyake, Naomichi Matsumoto
Vydáno 2014Artigo -
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Molecular genetic analysis of 30 families with Joubert syndrome Autor Toshifumi Suzuki, Noriko Miyake, Yoshinori Tsurusaki, Nobuhiko Okamoto, A. Alkindy, A. Inaba, Masashi Sato, Shuichi Ito, Kazuhiro Muramatsu, S. Kimura, Daisuke Ieda, Shinji Saitoh, Meire Ioshie Hiyane, Hiroshi Suzumura, Kazuma Yagyu, Hideaki Shiraishi, Masatoshi Nakajima, Noboru Fueki, Y. Habata, Yuki Ueda, Yumiko Komatsu, Kunimasa Yan, Konomi Shimoda, Yoshinori Shitara, Seiji Mizuno, Kenji Ichinomiya, Koichi Sameshima, Yu Tsuyusaki, K. KUROSAWA, Yasunari Sakai, Kazuhiro Haginoya, Yukio Kobayashi, C. Yoshizawa, M. Hisano, Mitsuko Nakashima, Hirotomo Saitsu, Satoru Takeda, Naomichi Matsumoto
Vydáno 2016Artigo -
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Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder Autor Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Satoko Miyatake, Eriko Koshimizu, Itaru Kushima, Takashi Okada, Mako Morikawa, Yota Uno, Kanako Ishizuka, Kazuhiko Nakamura, Masatsugu Tsujii, Takeo Yoshikawa, Tomoko Toyota, Nobuhiko Okamoto, Yoko Hiraki, Ryota Hashimoto, Yuka Yasuda, Shinji Saitoh, Kei Ohashi, Yasunari Sakai, Shouichi Ohga, Toshiro Hara, Mitsuhiro Kato, Kazuyuki Nakamura, Aiko Ito, Chizuru Seiwa, Emi Shirahata, Hitoshi Osaka, Ayumi Matsumoto, Saoko Takeshita, Jun Tohyama, Tomoko Saikusa, Toyojiro Matsuishi, Takumi Nakamura, Takashi Tsuboi, Tadafumi Kato, Toshifumi Suzuki, Hirotomo Saitsu, Mitsuko Nakashima, Takeshi Mizuguchi, Fumiaki Tanaka, Norio Mori, Norio Ozaki, Naomichi Matsumoto
Vydáno 2018Artigo -
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Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses Autor Yuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, Satoko Miyatake, Kohei Hamanaka, Naomi Tsuchida, Hiromi Aoi, Yoshiteru Azuma, Toshiyuki Itai, Ken Saida, Hiromi Fukuda, Futoshi Sekiguchi, Tomohiro Sakaguchi, Ming Lei, Sachiko Ohori, Masamune Sakamoto, Mitsuhiro Kato, Takayoshi Koike, Yukitoshi Takahashi, Koichi Tanda, Yuki Hyodo, Rachel Sayuri Honjo, Débora Romeo Bertola, Chong Ae Kim, Masahide Goto, Tetsuya Okazaki, Hiroyuki Yamada, Yoshihiro Maegaki, Hitoshi Osaka, Lock Hock Ngu, Gaik-Siew Ch’ng, Keng Wee Teik, Manami Akasaka, Hiroshi Doi, Fumiaki Tanaka, Tomohide Goto, Long Guo, Shiro Ikegawa, Kazuhiro Haginoya, Muzhirah Haniffa, Nozomi Hiraishi, Yoko Hiraki, Satoru Ikemoto, Atsuro Daida, Shin‐ichiro Hamano, Masaki Miura, Akihiko Ishiyama, Osamu Kawano, Akane Kondo, Hiroshi Matsumoto, Nobuhiko Okamoto, Tohru Okanishi, Yukimi Oyoshi, Eri Takeshita, Toshifumi Suzuki, Yoshiyuki Ogawa, Hiroshi Handa, Yayoi Miyazono, Eriko Koshimizu, Atsushi Fujita, Atsushi Takata, Noriko Miyake, Takeshi Mizuguchi, Naomichi Matsumoto
Vydáno 2020Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Mutation
Computational biology
Exome sequencing
Exome
Genome
Medicine
Allele
Autism
Autism spectrum disorder
Bioinformatics
Breakpoint
Chromosomal inversion
Chromosomal rearrangement
Chromosomal translocation
Chromosome
Compound heterozygosity
Copy-number variation
Developmental psychology
Environmental health
Evolutionary biology
Gene knockdown
Genomics
Heritability of autism
Intellectual disability
Joubert syndrome
Karyotype
Microcephaly