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Page 1
Erratum to: Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
Mizuguchi T, Toyota T, Miyatake S, Mitsuhashi S, Doi H, Kudo Y, Kishida H, Hayashi N, Tsuburaya RS, Kinoshita M, Fukuyama T, Fukuda H, Koshimizu E, Tsuchida N, Uchiyama Y, Fujita A, Takata A, Miyake N, Kato M, Tanaka F, Adachi H, Matsumoto N. Mizuguchi T, et al. Among authors: matsumoto n. Brain. 2021 Sep 4;144(8):e67. doi: 10.1093/brain/awab183. Brain. 2021. PMID: 34037746 No abstract available.
[Microarray CGH].
Miyake N, Matsumoto N. Miyake N, et al. Among authors: matsumoto n. Nihon Rinsho. 2005 Dec;63 Suppl 12:167-70. Nihon Rinsho. 2005. PMID: 16416789 Review. Japanese. No abstract available.
[Genetic testing for Marfan syndrome].
Mizuguchi T, Matsumoto N. Mizuguchi T, et al. Among authors: matsumoto n. Nihon Rinsho. 2005 Dec;63 Suppl 12:427-30. Nihon Rinsho. 2005. PMID: 16416828 Review. Japanese. No abstract available.
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.
Saitsu H, Kato M, Koide A, Goto T, Fujita T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N. Saitsu H, et al. Among authors: matsumoto n. Ann Neurol. 2012 Aug;72(2):298-300. doi: 10.1002/ana.23620. Ann Neurol. 2012. PMID: 22926866 No abstract available.
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori A, Yamasaki M, Kumakura A, Sugo Y, Nishiyama K, Miyatake S, Tsurusaki Y, Doi H, Miyake N, Matsumoto N, Saitsu H. Yoneda Y, et al. Among authors: matsumoto n. Ann Neurol. 2013 Jan;73(1):48-57. doi: 10.1002/ana.23736. Epub 2012 Dec 7. Ann Neurol. 2013. PMID: 23225343
Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.
Kondo Y, Koshimizu E, Megarbane A, Hamanoue H, Okada I, Nishiyama K, Kodera H, Miyatake S, Tsurusaki Y, Nakashima M, Doi H, Miyake N, Saitsu H, Matsumoto N. Kondo Y, et al. Among authors: matsumoto n. Am J Med Genet A. 2013 Jul;161A(7):1543-6. doi: 10.1002/ajmg.a.35983. Epub 2013 May 23. Am J Med Genet A. 2013. PMID: 23703728
3,354 results