檢索結果 - Yohei Misumi

Urinary Transthyretin as a Biomarker in ATTRv Val50Met Amyloidosis 由 Hiroaki Matsushita, Yohei Misumi, Teruaki Masuda, Masamitsu Okada, Fumika Inoue, Mitsuharu Ueda, Yukio Ando

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X-linked intellectual disability related to a novel variant of KLHL15 由 Jun Kido, Kimiyasu Egami, Yohei Misumi, Keishin Sugawara, Naomi Tsuchida, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura

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Genetic and clinical features of hereditary transthyretin amyloidosis: a decade of experience at a Japanese referral center 由 Toshiya Nomura, Yohei Misumi, Masayoshi Tasaki, Shiori Yamakawa, Tomoaki Taguchi, Konen Obayashi, Taro Yamashita, Yukio Ando, Mitsuharu Ueda

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Heterozygous c.175C>T variant in PURA gene causes severe developmental delay 由 Yusuke Noda, Jun Kido, Yohei Misumi, Keishin Sugawara, Sachiko Ohori, Atsushi Fujita, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura

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Osteogenesis imperfecta, intellectual disability and recurrent infections in a male with a pathogenic SASH3 variant 由 Jun Kido, Tomoyuki Mizukami, Yohei Misumi, Keishin Sugawara, Shouichirou Kusunoki, Naoto Nishimura, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura

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Impact of Baseline Neuropathy Severity on Vutrisiran Treatment Response in the Phase 3 HELIOS-A Study 由 Marco Luigetti, Dianna Quan, John L. Berk, Isabel Conceição, Yohei Misumi, Chi-Chao Chao, Shaun Bender, Emre Aldinc, John Vest, David Adams

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