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Page 1
MLL2 and KDM6A mutations in patients with Kabuki syndrome.
Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N. Miyake N, et al. Among authors: fujita t. Am J Med Genet A. 2013 Sep;161A(9):2234-43. doi: 10.1002/ajmg.a.36072. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913813
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: fujita t. Ann Neurol. 2012 Aug;72(2):298-300. doi: 10.1002/ana.23620. Ann Neurol. 2012. PMID: 22926866 No abstract available.
Quinidine therapy and therapeutic drug monitoring in four patients with KCNT1 mutations.
Yoshitomi S, Takahashi Y, Yamaguchi T, Oboshi T, Horino A, Ikeda H, Imai K, Okanishi T, Nakashima M, Saitsu H, Matsumoto N, Yoshimoto J, Fujita T, Ishii A, Hirose S, Inoue Y. Yoshitomi S, et al. Among authors: fujita t. Epileptic Disord. 2019 Feb 1;21(1):48-54. doi: 10.1684/epd.2019.1026. Epileptic Disord. 2019. PMID: 30782581
Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis.
Ishii A, Yasumoto S, Ihara Y, Inoue T, Fujita T, Nakamura N, Ohfu M, Yamashita Y, Takatsuka H, Taga T, Miyata R, Ito M, Tsuchiya H, Matsuoka T, Kitao T, Murakami K, Lee WT, Kaneko S, Hirose S. Ishii A, et al. Among authors: fujita t. Brain Dev. 2013 Jun;35(6):524-30. doi: 10.1016/j.braindev.2012.09.006. Epub 2012 Oct 13. Brain Dev. 2013. PMID: 23073245
Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case Series.
Sasaki M, Okanishi T, Matsuoka T, Yoshimura A, Maruyama S, Shiohama T, Hoshino H, Mori T, Majima H, Matsumoto H, Kobayashi S, Chiyonobu T, Matsushige T, Nakamura K, Kubota K, Tanaka R, Fujita T, Enoki H, Suzuki Y, Nakamura S, Fujimoto A, Maegaki Y. Sasaki M, et al. Among authors: fujita t. Pediatr Neurol. 2024 Aug;157:29-38. doi: 10.1016/j.pediatrneurol.2024.05.007. Epub 2024 May 15. Pediatr Neurol. 2024. PMID: 38848614
Association of Preoperative Physical Fitness With Post-Esophagectomy Pneumonia in Older With Locally Advanced Esophageal Cancer: An Exploratory Prospective Study.
Harada T, Tsuji T, Ueno J, Konishi N, Yanagisawa T, Hijikata N, Ishikawa A, Hashimoto K, Kagaya H, Tatematsu N, Zenda S, Kotani D, Kojima T, Fujita T. Harada T, et al. Among authors: fujita t. J Surg Oncol. 2024 Dec 29. doi: 10.1002/jso.28068. Online ahead of print. J Surg Oncol. 2024. PMID: 39734281
7,625 results