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Page 1
Clinical and genetic spectrum of patients with IRF2BPL syndrome.
Iwama K, Kato M, Uchiyama Y, Sakamoto M, Miyamoto R, Izumi Y, Ohashi K, Hattori A, Yoshida N, Azuma Y, Watanabe A, Ikeda C, Shimizu-Motohashi Y, Kusabiraki S, Nakagawa E, Sasaki M, Sugai K, Ohori S, Tsuchida N, Hamanaka K, Koshimizu E, Fujita A, Nakashima M, Miyatake S, Sengoku T, Ogata K, Saitoh S, Saitsu H, Ito S, Mizuguchi T, Matsumoto N. Iwama K, et al. Among authors: matsumoto n. J Hum Genet. 2025 Jan 22. doi: 10.1038/s10038-025-01316-2. Online ahead of print. J Hum Genet. 2025. PMID: 39843638
KNTC1 introduces segmental heterogeneity to mitochondria.
Tsukamura A, Ariyama H, Hayashi N, Miyatake S, Okado S, Sultana S, Terakado I, Yamamoto T, Yamanaka S, Fujii S, Hamanoue H, Asano R, Mizushima T, Matsumoto N, Maruo Y, Mori M. Tsukamura A, et al. Among authors: matsumoto n. Dis Model Mech. 2025 Jan 20:dmm.052063. doi: 10.1242/dmm.052063. Online ahead of print. Dis Model Mech. 2025. PMID: 39829138 Free article.
Triple mosaic variants of PURA in a patient with multiple congenital anomalies.
Fujita A, Suenaga Y, Takeshita E, Takahashi Y, Suzuki Y, Ohori S, Tsuchida N, Uchiyama Y, Koshimizu E, Miyatake S, Mizuguchi T, Matsumoto N. Fujita A, et al. Among authors: matsumoto n. J Hum Genet. 2025 Jan 14. doi: 10.1038/s10038-024-01315-9. Online ahead of print. J Hum Genet. 2025. PMID: 39809889
H and B Blood Antigens Are Essential for In Vitro Replication of GII.2 Human Norovirus.
Tamiya S, Matsumoto N, Kurokawa S, Nakamura Y, Takahashi Y, Sakon N, Inoue M, Koike Y, Uchida K, Yuki Y, Ushijima H, Kiyono H, Sato S. Tamiya S, et al. Among authors: matsumoto n. Open Forum Infect Dis. 2024 Dec 18;12(1):ofae714. doi: 10.1093/ofid/ofae714. eCollection 2025 Jan. Open Forum Infect Dis. 2024. PMID: 39758750 Free PMC article.
Hemostatic Dynamics Mainly Based on Hypofibrinolysis During Early-Phase Interfant-Type Chemotherapy in Three Infants with Acute Lymphoblastic Leukemia: Results from Japan Children's Cancer Group ThrombALL-MLL-17.
Ishihara T, Onishi T, Osone S, Imamura T, Matsumoto N, Suzuki K, Arakawa Y, Miyamura T, Tomizawa D, Nogami K. Ishihara T, et al. Among authors: matsumoto n. Pediatr Blood Cancer. 2025 Mar;72(3):e31524. doi: 10.1002/pbc.31524. Epub 2025 Jan 5. Pediatr Blood Cancer. 2025. PMID: 39757697 No abstract available.
3,354 results