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Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype by Kenji Yamada, Yoshimitsu Osawa, Hironori Kobayashi, Ryosuke Bo, Yuichi Mushimoto, Yuki Hasegawa, Seiji Yamaguchi, Takeshi Taketani
Published 2022-12-01
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Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan by Shoko Sonehara, Ryosuke Bo, Yoshinori Nambu, Kiiko Iketani, Tomoko Lee, Hideki Shimomura, Masaaki Ueda, Yasuhiro Takeshima, Kazumoto Iijima, Kandai Nozu, Hisahide Nishio, Hiroyuki Awano
Published 2023-12-01
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Correction: Noguchi et al. PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan. <i>Genes</i> 2022, <i>13</i>, 2110 by Yoriko Noguchi, Ryosuke Bo, Hisahide Nishio, Hisayuki Matsumoto, Keiji Matsui, Yoshihiko Yano, Masami Sugawara, Go Ueda, Yogik Onky Silvana Wijaya, Emma Tabe Eko Niba, Masakazu Shinohara, Yoshihiro Bouike, Atsuko Takeuchi, Kentaro Okamoto, Toshio Saito, Hideki Shimomura, Tomoko Lee, Yasuhiro Takeshima, Kazumoto Iijima, Kandai Nozu, Hiroyuki Awano
Published 2023-03-01
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PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan by Yoriko Noguchi, Ryosuke Bo, Hisahide Nishio, Hisayuki Matsumoto, Keiji Matsui, Yoshihiko Yano, Masami Sugawara, Go Ueda, Yogik Onky Silvana Wijaya, Emma Tabe Eko Niba, Masakazu Shinohara, Yoshihiro Bouike, Atsuko Takeuchi, Kentaro Okamoto, Toshio Saito, Hideki Shimomura, Tomoko Lee, Yasuhiro Takeshima, Kazumoto Iijima, Kandai Nozu, Hiroyuki Awano
Published 2022-11-01
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