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239 results

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Page 1
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.
Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumoto N, Saitsu H. Kodera H, et al. Among authors: maegaki y. Hum Mutat. 2013 Dec;34(12):1708-14. doi: 10.1002/humu.22446. Epub 2013 Oct 15. Hum Mutat. 2013. PMID: 24115232
Monozygotic twins discordant for Klippel-Feil syndrome.
Toyoshima M, Maegaki Y, Yuasa I, Ohno K. Toyoshima M, et al. Among authors: maegaki y. Pediatr Neurol. 2006 Jan;34(1):76-8. doi: 10.1016/j.pediatrneurol.2005.07.003. Pediatr Neurol. 2006. PMID: 16376286
MECP2 duplication syndrome in both genders.
Shimada S, Okamoto N, Ito M, Arai Y, Momosaki K, Togawa M, Maegaki Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T. Shimada S, et al. Among authors: maegaki y. Brain Dev. 2013 May;35(5):411-9. doi: 10.1016/j.braindev.2012.07.010. Epub 2012 Aug 9. Brain Dev. 2013. PMID: 22877836
Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications.
Shimada S, Shimojima K, Okamoto N, Sangu N, Hirasawa K, Matsuo M, Ikeuchi M, Shimakawa S, Shimizu K, Mizuno S, Kubota M, Adachi M, Saito Y, Tomiwa K, Haginoya K, Numabe H, Kako Y, Hayashi A, Sakamoto H, Hiraki Y, Minami K, Takemoto K, Watanabe K, Miura K, Chiyonobu T, Kumada T, Imai K, Maegaki Y, Nagata S, Kosaki K, Izumi T, Nagai T, Yamamoto T. Shimada S, et al. Among authors: maegaki y. Brain Dev. 2015 May;37(5):515-26. doi: 10.1016/j.braindev.2014.08.002. Epub 2014 Aug 27. Brain Dev. 2015. PMID: 25172301
Manifestations and characteristics of congenital adrenal hyperplasia-associated encephalopathy.
Abe Y, Sakai T, Okumura A, Akaboshi S, Fukuda M, Haginoya K, Hamano S, Hirano K, Kikuchi K, Kubota M, Lee S, Maegaki Y, Sanefuji M, Shimozato S, Suzuki M, Suzuki Y, Takahashi M, Watanabe K, Mizuguchi M, Yamanouchi H. Abe Y, et al. Among authors: maegaki y. Brain Dev. 2016 Aug;38(7):638-47. doi: 10.1016/j.braindev.2016.01.007. Epub 2016 Feb 15. Brain Dev. 2016. PMID: 26898804
Characterization of SPATA5-related encephalopathy in early childhood.
Kurata H, Terashima H, Nakashima M, Okazaki T, Matsumura W, Ohno K, Saito Y, Maegaki Y, Kubota M, Nanba E, Saitsu H, Matsumoto N, Kato M. Kurata H, et al. Among authors: maegaki y. Clin Genet. 2016 Nov;90(5):437-444. doi: 10.1111/cge.12813. Epub 2016 Jul 4. Clin Genet. 2016. PMID: 27246907
239 results