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1,882 results

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Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.
Kimizu T, Ida S, Oki K, Shima M, Nishimoto S, Nakajima K, Ikeda T, Mogami Y, Yanagihara K, Matsuda K, Nishi E, Hasegawa Y, Nozaki M, Fujita H, Irie A, Katayama T, Okamoto N, Imai K, Nishio H, Suzuki Y. Kimizu T, et al. Among authors: okamoto n. Brain Dev. 2023 Aug;45(7):363-371. doi: 10.1016/j.braindev.2023.03.004. Epub 2023 Mar 25. Brain Dev. 2023. PMID: 36973114
Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years.
Kimizu T, Nozaki M, Okada Y, Sawada A, Morisaki M, Fujita H, Irie A, Matsuda K, Hasegawa Y, Nishi E, Okamoto N, Kawai M, Imai K, Suzuki Y, Wada K, Mitsuda N, Ida S. Kimizu T, et al. Among authors: okamoto n. Genes (Basel). 2024 Feb 28;15(3):314. doi: 10.3390/genes15030314. Genes (Basel). 2024. PMID: 38540372 Free PMC article.
Modelling Takenouchi-Kosaki syndrome using disease-specific iPSCs.
Thanasegaran S, Daimon E, Shibukawa Y, Yamazaki N, Okamoto N. Thanasegaran S, et al. Among authors: okamoto n. Stem Cell Res. 2023 Dec;73:103221. doi: 10.1016/j.scr.2023.103221. Epub 2023 Oct 18. Stem Cell Res. 2023. PMID: 37918315 Free article.
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants.
Inoue Y, Tsuchida N, Okamoto N, Shuichi S, Ohashi K, Saitoh S, Ogawa A, Hamada K, Sakamoto M, Miyake N, Hamanaka K, Fujita A, Koshimizu E, Miyatake S, Mizuguchi T, Ogata K, Uchiyama Y, Matsumoto N. Inoue Y, et al. Among authors: okamoto n. Clin Genet. 2023 May;103(5):590-595. doi: 10.1111/cge.14292. Epub 2023 Jan 7. Clin Genet. 2023. PMID: 36576140
A novel NONO variant that causes developmental delay and cardiac phenotypes.
Itai T, Sugie A, Nitta Y, Maki R, Suzuki T, Shinkai Y, Watanabe Y, Nakano Y, Ichikawa K, Okamoto N, Utsuno Y, Koshimizu E, Fujita A, Hamanaka K, Uchiyama Y, Tsuchida N, Miyake N, Misawa K, Mizuguchi T, Miyatake S, Matsumoto N. Itai T, et al. Among authors: okamoto n. Sci Rep. 2023 Jan 18;13(1):975. doi: 10.1038/s41598-023-27770-6. Sci Rep. 2023. PMID: 36653413 Free PMC article.
1,882 results