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Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo RS, Bertola DR, Kim CA, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu LH, Siew CG, Teik KW, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano SI, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, Matsumoto N. Uchiyama Y, et al. Among authors: yamada h. Hum Mutat. 2021 Jan;42(1):50-65. doi: 10.1002/humu.24129. Epub 2020 Nov 11. Hum Mutat. 2021. PMID: 33131168
Progressive cerebral atrophies in three children with COL4A1 mutations.
Nakamura Y, Okanishi T, Yamada H, Okazaki T, Hosoda C, Itai T, Miyatake S, Saitsu H, Matsumoto N, Maegaki Y. Nakamura Y, et al. Among authors: yamada h. Brain Dev. 2021 Nov;43(10):1033-1038. doi: 10.1016/j.braindev.2021.06.008. Epub 2021 Jul 17. Brain Dev. 2021. PMID: 34281745
Clinical characteristics of SARS-CoV-2-associated encephalopathy in children: Nationwide epidemiological study.
Kasai M, Sakuma H, Abe Y, Kuki I, Maegaki Y, Murayama K, Murofushi Y, Nagase H, Nishiyama M, Okumura A, Sakai Y, Tada H, Mizuguchi M, Takanashi JI; Japanese Pediatric Neuro-COVID-19 Study Group. Kasai M, et al. J Neurol Sci. 2024 Feb 15;457:122867. doi: 10.1016/j.jns.2024.122867. Epub 2024 Jan 3. J Neurol Sci. 2024. PMID: 38199023 Free article.
Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophy.
Miyoshi Y, Sakai N, Hamada Y, Tachibana M, Hasegawa Y, Kiyohara Y, Yamada H, Murakami M, Kondou H, Kimura-Ohba S, Mine J, Sato T, Kamio N, Ueda H, Suzuki Y, Shiomi M, Ohta H, Shimozawa N, Ozono K. Miyoshi Y, et al. Among authors: yamada h. Endocr J. 2010;57(11):965-72. doi: 10.1507/endocrj.k10e-204. Epub 2010 Sep 16. Endocr J. 2010. PMID: 20859061 Free article.
7,571 results