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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: takahashi y. Hum Mutat. 2021 Jan;42(1):50-65. doi: 10.1002/humu.24129. Epub 2020 Nov 11. Hum Mutat. 2021. PMID: 33131168
Epileptic spasms secondary to acute cerebral and cerebellar encephalitis.
Okanishi T, Fujimoto A, Hashimoto R, Nishimura M, Kanai S, Ogawa M, Suzuki T, Motoi H, Takahashi Y, Enoki H. Okanishi T, et al. Among authors: takahashi y. Brain Dev. 2018 Mar;40(3):218-221. doi: 10.1016/j.braindev.2017.11.006. Epub 2017 Nov 29. Brain Dev. 2018. PMID: 29198411
A recurrent homozygous NHLRC1 variant in siblings with Lafora disease.
Araya N, Takahashi Y, Shimono M, Fukuda T, Kato M, Nakashima M, Matsumoto N, Saitsu H. Araya N, et al. Among authors: takahashi y. Hum Genome Var. 2018 Jul 12;5:16. doi: 10.1038/s41439-018-0015-9. eCollection 2018. Hum Genome Var. 2018. PMID: 30083360 Free PMC article.
12,159 results
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