Search Results - Naomi Tsuchida
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Case Report: Tocilizumab Treatment for VEXAS Syndrome With Relapsing Polychondritis: A Single-Center, 1-Year Longitudinal Observational Study In Japan by Yosuke Kunishita, Yohei Kirino, Naomi Tsuchida, Naomi Tsuchida, Naomi Tsuchida, Ayaka Maeda, Yuichiro Sato, Kaoru Takase-Minegishi, Ryusuke Yoshimi, Hideaki Nakajima
Published in Frontiers in Immunology (2022-06-01)Get full text
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Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease. by Yuji Nakamura, Kohji Kato, Naomi Tsuchida, Naomichi Matsumoto, Yoshiyuki Takahashi, Shinji Saitoh
Published in PLoS ONE (2019-01-01)Get full text
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Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication by Takuya Masuda, Hitoshi Osaka, Naomi Tsuchida, Satoko Miyatake, Kou Nishimura, Toshiki Takenouchi, Takao Takahashi, Naomichi Matsumoto, Takanori Yamagata
Published in Epilepsy & Behavior Reports (2022-01-01)Get full text
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A case of Baraitser–Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing by Kenichi Suga, Hiroki Sato, Masashi Suzue, Yukako Honma, Yasunobu Hayabuchi, Ryuji Nakagawa, Kayo Shinomiya, Nobuhiko Okamoto, Yuta Inoue, Naomi Tsuchida, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi, Maki Urushihara
Published in Human Genome Variation (2025-09-01)Get full text
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Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature by Takeshi Mizuguchi, Nobuhiko Okamoto, Taiki Hara, Naoto Nishimura, Masamune Sakamoto, Li Fu, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Eriko Koshimizu, Atsushi Fujita, Kazuharu Misawa, Kazuhiko Nakabayashi, Satoko Miyatake, Naomichi Matsumoto
Published in Clinical Epigenetics (2025-02-01)Get full text
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Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population by Kei-ichiro Inamori, Katsuya Nakamura, Katsuya Nakamura, Fumi Shishido, Jia-Chen Hsu, Masakazu Nagafuku, Takahiro Nitta, Takahiro Nitta, Takahiro Nitta, Junji Ikeda, Hidekane Yoshimura, Minori Kodaira, Naomi Tsuchida, Naomi Tsuchida, Naomichi Matsumoto, Satoshi Uemura, Shiho Ohno, Noriyoshi Manabe, Yoshiki Yamaguchi, Akira Togayachi, Kiyoko F. Aoki-Kinoshita, Shoko Nishihara, Jun-ichi Furukawa, Tadashi Kaname, Masahiko Nakamura, Takayoshi Shimohata, Shu Tadaka, Matsuyuki Shirota, Kengo Kinoshita, Yutaka Nakamura, Isao Ohno, Yoshiki Sekijima, Jin-ichi Inokuchi
Published in Frontiers in Neuroscience (2024-07-01)Get full text
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A novel NONO variant that causes developmental delay and cardiac phenotypes by Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Published in Scientific Reports (2023-01-01)Get full text
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The predictive prognostic factors for polymyositis/dermatomyositis-associated interstitial lung disease by Yumiko Sugiyama, Ryusuke Yoshimi, Maasa Tamura, Mitsuhiro Takeno, Yosuke Kunishita, Daiga Kishimoto, Yuji Yoshioka, Kouji Kobayashi, Kaoru Takase-Minegishi, Toshiyuki Watanabe, Naoki Hamada, Hideto Nagai, Naomi Tsuchida, Yutaro Soejima, Hiroto Nakano, Reikou Kamiyama, Takeaki Uehara, Yohei Kirino, Akiko Sekiguchi, Atsushi Ihata, Shigeru Ohno, Shouhei Nagaoka, Hideaki Nakajima
Published in Arthritis Research & Therapy (2018-01-01)Get full text
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Protective effect of hydroxychloroquine on infections in patients with systemic lupus erythematosus: an observational study using the LUNA registry by Chiharu Hidekawa, Ryusuke Yoshimi, Ryusuke Yoshimi, Yusuke Saigusa, Jun Tamura, Noriko Kojitani, Naoki Suzuki, Natsuki Sakurai, Yuji Yoshioka, Yumiko Sugiyama-Kawahara, Yosuke Kunishita, Daiga Kishimoto, Kana Higashitani, Yuichiro Sato, Takaaki Komiya, Hideto Nagai, Naoki Hamada, Ayaka Maeda, Naomi Tsuchida, Lisa Hirahara, Yutaro Soejima, Kaoru Takase-Minegishi, Yohei Kirino, Nobuyuki Yajima, Ken-ei Sada, Yoshia Miyawaki, Kunihiro Ichinose, Shigeru Ohno, Hiroshi Kajiyama, Shuzo Sato, Yasuhiro Shimojima, Michio Fujiwara, Hideaki Nakajima
Published in Frontiers in Immunology (2023-09-01)Get full text
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Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay by Kohei Hamanaka, Atsushi Fujita, Satoko Miyatake, Kazuharu Misawa, Eriko Koshimizu, Yuri Uchiyama, Naomi Tsuchida, Rie Seyama, Masamune Sakamoto, Kazuhiro Iwama, Naoto Nishimura, Yasuhiro Utsuno, Li Fu, Marina Takizawa, Qiaowei Liang, Toshiyuki Itai, Ken Saida, Sachiko Ohori, Shinichi Kameyama, Hiromi Fukuda, Yukina Hayashi, Yuta Inoue, Tomohide Goto, Kazushi Ichikawa, Ichiro Kuki, Masataka Fukuoka, Kiyohiro Kim, Tadashi Shiohama, Konomi Shimoda, Kosuke Otsuka, Yuki Ueda, Kazutoshi Cho, Kotaro Yuge, Nobutada Tachi, Masaki Yoshida, Atsuro Daida, Kyoko Hirasawa, Tomoe Yanagishita, Toshiyuki Yamamoto, Kentaro Shirai, Tammar Fixler Mehr, Aviva Fattal-Valevski, Dorit Lev, Haruna Yokoyama, Emi Iwabuchi, Yoshihiko Saito, Masaki Miura, Kenji Sugai, Akihiko Ishiyama, Masayuki Sasaki, Yoshihiro Watanabe, Jun-ichi Takanashi, Chong Ae Kim, Kenji Yokochi, Jun Tohyama, Tatsuo Mori, Yuishin Izumi, Yuiko Hasegawa, Nobuhiko Okamoto, Takahiro Ikeda, Hitoshi Osaka, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, Mitsuhiro Kato, Takeshi Mizuguchi, Naomichi Matsumoto
Published in npj Genomic Medicine (2025-08-01)Get full text
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