Showing 1 - 4 results of 4 for search 'Yohei Sugiyama', query time: 0.01s
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Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis by Kohta Nakamura, Yukiko Yatsuka, Sachie Naito, Akira Hasegawa, Takeya Kasukawa, Atsushi Kondo, Yoshihito Kishita, Yohei Sugiyama, Takanori Onuki, Tomohiro Ebihara, Tomoko Tsuruoka, Takuya Fushimi, Akira Ohtake, Kei Murayama, Atsuko Imai‐Okazaki, Yasushi Okazaki
Published 2025-01-01Get full text
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Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy by Takanori Onuki, Makiko Tajika, Yohei Sugiyama, Masaru Shimura, Keiko Ichimoto, Toju Tanaka, Hiromi Nyuzuki, Motomichi Kosuga, Ohsuke Migita, Tetsuya Ito, Hideo Sasai, Ryosuke Bo, Junpei Hamada, Takashi Hamazaki, Norio Sakai, Takahito Inoue, Kimitoshi Nakamura, Torayuki Okuyama, Kei Murayama
Published 2025-07-01Get full text
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Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy by Kokoro Ozaki, Yukiko Yatsuka, Yoshinobu Oyazato, Atsushi Nishiyama, Kazuhiro R. Nitta, Yoshihito Kishita, Takuya Fushimi, Masaru Shimura, Shohei Noma, Yohei Sugiyama, Michihira Tagami, Moe Fukunaga, Hiroko Kinoshita, Tomoko Hirata, Wataru Suda, Yasuhiro Murakawa, Piero Carninci, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Published 2024-10-01Get full text
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