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SaveA de novo splice-site variant in the retinitis pigmentosa 2 (RP2) gene identified in a symptomatic carrier woman
Domoto, Aya; Kuniyoshi, Kazuki; Suga, Akiko; Mizobuchi, Kei; Yoshitake, Kazutoshi; Kawai, Yosuke; Omae, Yosuke; Tokunaga, Katsushi; Sawa, Miki; Hayashi, Takaaki; Mano, Fukutaro; Sakamoto, Masuo; Iwahashi, Chiharu; Nakano, Tadashi; Iwata, Takeshi; Kusaka, Shunji Share Save Share Save Share Save A retrospective cohort study evaluating the predictive value of urinary L-FABP combined with the SOFA score for assessing COVID-19 severityTerakawa, Kanako; Katagiri, Daisuke; Asai, Yusuke; Ishikane, Masahiro; Ohmagari, Norio; Suzuki, Minami; Hojo, Masayuki; Takano, Hideki; Tokunaga, Katsushi; Sugaya, Takeshi; Noiri, Eisei Share Save Clinical, neuroimaging and genetic findings in the Japanese case series of CLCN2-related leukoencephalopathyOrimo, Kenta; Matsukawa, Takashi; Mitsutake, Akihiko; Cho, Takusei; Naruse, Hiroya; Sakiyama, Yoshio; Sumi, Kensho; Uchio, Naohiro; Satake, Akane; Takiyama, Yoshihisa; Matsushita, Takuya; Omae, Yosuke; Kawai, Yosuke; Tokunaga, Katsushi; Mitsui, Jun; Ishiura, Hiroyuki; Tsuji, Shoji; Toda, Tatsushi Share Save Genome-wide association study of common side effects following COVID-19 booster vaccination in a cohort of corporate employees in JapanOmae, Yosuke; Khor, Seik-Soon; Shimada, Mihoko; Kawai, Yosuke; Yamaguchi, Taihei; Yagi, Maiko; Ebisawa, Masashi; Takeuchi, Junko S.; Mizoue, Tetsuya; Sugiura, Wataru; Tokunaga, Katsushi Share Save Share Save Predicting coronavirus disease 2019 severity using explainable artificial intelligence techniquesOzawa, Takuya; Chubachi, Shotaro; Namkoong, Ho; Nemoto, Shota; Ikegami, Ryo; Asakura, Takanori; Tanaka, Hiromu; Lee, Ho; Fukushima, Takahiro; Azekawa, Shuhei; Otake, Shiro; Nakagawara, Kensuke; Watase, Mayuko; Masaki, Katsunori; Kamata, Hirofumi; Harada, Norihiro; Ueda, Tetsuya; Ueda, Soichiro; Ishiguro, Takashi; Arimura, Ken; Saito, Fukuki; Yoshiyama, Takashi; Nakano, Yasushi; Muto, Yoshikazu; Suzuki, Yusuke; Edahiro, Ryuya; Murakami, Koji; Sato, Yasunori; Okada, Yukinori; Koike, Ryuji; Ishii, Makoto; Hasegawa, Naoki; Kitagawa, Yuko; Tokunaga, Katsushi; Kimura, Akinori; Miyano, Satoru; Ogawa, Seishi; Kanai, Takanori; Fukunaga, Koichi; Imoto, Seiya Share Save Impact of accumulative smoking exposure and chronic obstructive pulmonary disease on COVID-19 outcomes: report based on findings from the Japan COVID-19 task force (vol 128, pg 121, 2023)Watase, Mayuko; Masaki, Katsunori; Chubachi, Shotaro; Namkoong, Ho; Tanaka, Hiromu; Lee, Ho; Fukushima, Takahiro; Otake, Shiro; Nakagawara, Kensuke; Kusumoto, Tatsuya; Asakura, Takanori; Kamata, Hirofumi; Ishii, Makoto; Hasegawa, Naoki; Oyamada, Yoshitaka; Harada, Norihiro; Ueda, Tetsuya; Ueda, Soichiro; Ishiguro, Takashi; Arimura, Ken; Saito, Fukuki; Yoshiyama, Takashi; Nakano, Yasushi; Mutoh, Yoshikazu; Suzuki, Yusuke; Edahiro, Ryuya; Sano, Hirohito; Sato, Yasunori; Okada, Yukinori; Koike, Ryuji; Kitagawa, Yuko; Tokunaga, Katsushi; Kimura, Akinori; Imoto, Seiya; Miyano, Satoru; Ogawa, Seishi; Kanai, Takanori; Fukunaga, Koichi Share Save JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular DiseaseImai, Yasushi; Kusano, Kengo; Aiba, Takeshi; Ako, Junya; Asano, Yoshihiro; Harada-Shiba, Mariko; Kataoka, Masaharu; Kosho, Tomoki; Kubo, Toru; Matsumura, Takayoshi; Minamino, Tetsuo; Minatoya, Kenji; Morita, Hiroyuki; Nishigaki, Masakazu; Nomura, Seitaro; Ogino, Hitoshi; Ohno, Seiko; Takamura, Masayuki; Tanaka, Toshihiro; Tsujita, Kenichi; Uchida, Tetsuro; Yamagishi, Hiroyuki; Ebana, Yusuke; Fujita, Kanna; Ida, Kazufumi; Inoue, Shunsuke; Ito, Kaoru; Kuramoto, Yuki; Maeda, Jun; Matsunaga, Keiji; Neki, Reiko; Sugiura, Kenta; Tada, Hayato; Tsuji, Akihiro; Yamada, Takanobu; Yamaguchi, Tomomi; Yamamoto, Eiichiro; Kimura, Akinori; Kuwahara, Koichiro; Maemura, Koji; Minamino, Tohru; Morisaki, Hiroko; Tokunaga, Katsushi; Japanese Coll Cardiology; Japanese Soc Pediat Cardiology; Cardiac Surg Joint Working Grp Share Save JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular DiseaseImai, Yasushi; Kusano, Kengo; Aiba, Takeshi; Ako, Junya; Asano, Yoshihiro; Harada-Shiba, Mariko; Kataoka, Masaharu; Kosho, Tomoki; Kubo, Toru; Matsumura, Takayoshi; Minamino, Tetsuo; Minatoya, Kenji; Morita, Hiroyuki; Nishigaki, Masakazu; Nomura, Seitaro; Ogino, Hitoshi; Ohno, Seiko; Takamura, Masayuki; Tanaka, Toshihiro; Tsujita, Kenichi; Uchida, Tetsuro; Yamagishi, Hiroyuki; Ebana, Yusuke; Fujita, Kanna; Ida, Kazufumi; Inoue, Shunsuke; Ito, Kaoru; Kuramoto, Yuki; Maeda, Jun; Matsunaga, Keiji; Neki, Reiko; Sugiura, Kenta; Tada, Hayato; Tsuji, Akihiro; Yamada, Takanobu; Yamaguchi, Tomomi; Yamamoto, Eiichiro; Kimura, Akinori; Kuwahara, Koichiro; Maemura, Koji; Minamino, Tohru; Morisaki, Hiroko; Tokunaga, Katsushi Share Save Share Save Genome-wide association analysis reveals the associations of NPHP4, TYW1-AUTS2 and SEMA6D for Behcet's disease and HLA-B*46:01 for its intestinal involvementJung, Eun Suk; Ellinghaus, David; Degenhardt, Frauke; Meguro, Akira; Khor, Seik-Soon; Mucha, Soeren; Wendorff, Mareike; Juzenas, Simonas; Mizuki, Nobuhisa; Tokunaga, Katsushi; Kim, Seung Won; Lee, Min Goo; Schreiber, Stefan; Kim, Won Ho; Franke, Andre; Cheon, Jae Hee Share Save Identification of the hybrid gene LILRB5-3 by long-read sequencing and implication of its novel signaling functionHirayasu, Kouyuki; Khor, Seik-Soon; Kawai, Yosuke; Shimada, Mihoko; Omae, Yosuke; Hasegawa, Gen; Hashikawa, Yuko; Tanimoto, Hiromu; Ohashi, Jun; Hosomichi, Kazuyoshi; Tajima, Atsushi; Nakamura, Hiroyuki; Nakamura, Minoru; Tokunaga, Katsushi; Hanayama, Rikinari; Nagasaki, Masao Share Save A genome-wide association study identified PTPN2 as a population-specific susceptibility gene locus for primary biliary cholangitisHitomi, Yuki; Ueno, Kazuko; Aiba, Yoshihiro; Nishida, Nao; Kono, Michihiro; Sugihara, Mitsuki; Kawai, Yosuke; Kawashima, Minae; Khor, Seik-Soon; Sugi, Kazuhiro; Kouno, Hirotaka; Kouno, Hiroshi; Naganuma, Atsushi; Iwamoto, Satoru; Katsushima, Shinji; Furuta, Kiyoshi; Nikami, Toshiki; Mannami, Tomohiko; Yamashita, Tsutomu; Ario, Keisuke; Komatsu, Tatsuji; Makita, Fujio; Shimada, Masaaki; Hirashima, Noboru; Yokohama, Shiro; Nishimura, Hideo; Sugimoto, Rie; Komura, Takuya; Ota, Hajime; Kojima, Motoyuki; Nakamuta, Makoto; Fujimori, Naoyuki; Yoshizawa, Kaname; Mano, Yutaka; Takahashi, Hironao; Hirooka, Kana; Tsuruta, Satoru; Sato, Takeaki; Yamasaki, Kazumi; Kugiyama, Yuki; Motoyoshi, Yasuhide; Suehiro, Tomoyuki; Saeki, Akira; Matsumoto, Kosuke; Nagaoka, Shinya; Abiru, Seigo; Yatsuhashi, Hiroshi; Ito, Masahiro; Kawata, Kazuhito; Takaki, Akinobu; Arai, Kuniaki; Arinaga, Teruko; Abe, Masanori; Harada, Masaru; Taniai, Makiko; Zeniya, Mikio; Ohira, Hiromasa; Shimoda, Shinji; Komori, Atsumasa; Tanaka, Atsushi; Ishigaki, Kazuyoshi; Nagasaki, Masao; Tokunaga, Katsushi; Nakamura, Minoru Share Save Cost-Effective Cas9-Mediated Targeted Sequencing of Spinocerebellar Ataxia Repeat ExpansionsTachikawa, Keiji; Shimizu, Takahiro; Imai, Takeshi; Ko, Riyoko; Kawai, Yosuke; Omae, Yosuke; Tokunaga, Katsushi; Frith, Martin C.; Yamano, Yoshihisa; Mitsuhashi, Satomi Share Save Share Save 
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