Institute of Science Tokyo · Institute for Advanced Studies

Research keywords希少疾患遺伝学・遺伝子変異解析・神経筋疾患・先天異常症候群・DNA修復異常

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• Moriura, Y; Nishio, Y; Ichimura, S; Noda, H; Tanahashi, Y; Yamamoto, H; Nakazawa, Y; Oso, T; Sato, Y; Takenouchi, T; Saitoh, S; Muramatsu, Y; Ogi, T. De novo CDKN1C variant in Beckwith-Wiedermann spectrum with atypical complications HUMAN GENOME VARIATION. 2025.05; 12 (1): ( PubMed , DOI )2025
• TLR7 Variants Enhance Responsiveness and Broaden RNA Specificity To Drive Human Lupus 2025.11; ( DOI )2025
• Iguchi, Y; Tsujikawa, K; Murakami, A; Kume, K; Nakazawa, Y; Oso, T; Nishio, Y; Matsuo, K; Fukami, Y; Araki, K; Ogi, T; Kawakami, H; Katsuno, M. A Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease Depending on the CGG Repeat Number in LRP12 INTERNAL MEDICINE. 2025.10; ( PubMed , DOI )2025
• Hojo, M; Soma, N; Yamada, K; Kobayashi, Y; Miura, M; Fujii, H; Nyuzuki, H; Nishio, Y; Oso, T; Ogi, T; Ikeuchi, T; Tohyama, J. Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant HUMAN GENOME VARIATION. 2024.12; 11 (1): ( PubMed , DOI )2024

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