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Whole-exome analysis of 177 pediatric patients with undiagnosed diseases.
Narita K, Muramatsu H, Narumi S, Nakamura Y, Okuno Y, Suzuki K, Hamada M, Yamaguchi N, Suzuki A, Nishio Y, Shiraki A, Yamamori A, Tsumura Y, Sawamura F, Kawaguchi M, Wakamatsu M, Kataoka S, Kato K, Asada H, Kubota T, Muramatsu Y, Kidokoro H, Natsume J, Mizuno S, Nakata T, Inagaki H, Ishihara N, Yonekawa T, Okumura A, Ogi T, Kojima S, Kaname T, Hasegawa T, Saitoh S, Takahashi Y. Narita K, et al. Among authors: ishihara n. Sci Rep. 2022 Aug 26;12(1):14589. doi: 10.1038/s41598-022-14161-6. Sci Rep. 2022. PMID: 36028527 Free PMC article.
TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.
Yokoi S, Ishihara N, Miya F, Tsutsumi M, Yanagihara I, Fujita N, Yamamoto H, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Kojima S, Saitoh S, Kurahashi H, Natsume J. Yokoi S, et al. Among authors: ishihara n. Sci Rep. 2015 Oct 23;5:15165. doi: 10.1038/srep15165. Sci Rep. 2015. PMID: 26493046 Free PMC article.
Clinical and neuroimaging findings in children with posterior reversible encephalopathy syndrome.
Yamamoto H, Natsume J, Kidokoro H, Ishihara N, Suzuki M, Tsuji T, Kubota T, Yamada A, Ozeki M, Kato Z, Kawamura Y, Yoshikawa T, Okumura A, Ando N, Saitoh S, Takahashi Y, Watanabe K, Kojima S. Yamamoto H, et al. Among authors: ishihara n. Eur J Paediatr Neurol. 2015 Nov;19(6):672-8. doi: 10.1016/j.ejpn.2015.07.005. Epub 2015 Jul 22. Eur J Paediatr Neurol. 2015. PMID: 26232050
Hippocampal Atrophy in Pediatric Transplant Recipients with Human Herpesvirus 6B.
Miyake M, Kawamura Y, Ishihara N, Suzuki S, Miura H, Sakaguchi Y, Tanaka M, Takahashi Y, Kojima S, Toyama H, Natsume J, Yoshikawa T. Miyake M, et al. Among authors: ishihara n. Microorganisms. 2021 Apr 8;9(4):776. doi: 10.3390/microorganisms9040776. Microorganisms. 2021. PMID: 33917715 Free PMC article.
368 results