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Page 1
Neuroradiologic features of CASK mutations.
Takanashi J, Arai H, Nabatame S, Hirai S, Hayashi S, Inazawa J, Okamoto N, Barkovich AJ. Takanashi J, et al. Among authors: nabatame s. AJNR Am J Neuroradiol. 2010 Oct;31(9):1619-22. doi: 10.3174/ajnr.A2173. Epub 2010 Jul 1. AJNR Am J Neuroradiol. 2010. PMID: 20595373 Free PMC article.
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
Niihori T, Aoki Y, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Kawame H, Inazawa J, Ohura T, Arai H, Nabatame S, Kikuchi K, Kuroki Y, Miura M, Tanaka T, Ohtake A, Omori I, Ihara K, Mabe H, Watanabe K, Niijima S, Okano E, Numabe H, Matsubara Y. Niihori T, et al. Among authors: nabatame s. J Hum Genet. 2011 Oct;56(10):707-15. doi: 10.1038/jhg.2011.85. Epub 2011 Aug 18. J Hum Genet. 2011. PMID: 21850009
SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome.
Hashimoto N, Kagitani-Shimono K, Sakai N, Otomo T, Tominaga K, Nabatame S, Mogami Y, Takahashi Y, Imai K, Yanagihara K, Okinaga T, Nagai T, Taniike M, Ozono K. Hashimoto N, et al. Among authors: nabatame s. J Hum Genet. 2011 Dec;56(12):846-51. doi: 10.1038/jhg.2011.115. Epub 2011 Oct 20. J Hum Genet. 2011. PMID: 22011817
A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia.
Kimura-Ohba S, Kagitani-Shimono K, Hashimoto N, Nabatame S, Okinaga T, Murakami A, Miyake N, Matsumoto N, Osaka H, Hojo K, Tomita R, Taniike M, Ozono K. Kimura-Ohba S, et al. Among authors: nabatame s. Am J Med Genet A. 2013 Jan;161A(1):203-7. doi: 10.1002/ajmg.a.35686. Epub 2012 Dec 13. Am J Med Genet A. 2013. PMID: 23239615
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, Kato M, Matsumoto N, Saitsu H. Tohyama J, et al. Among authors: nabatame s. J Hum Genet. 2015 Apr;60(4):167-73. doi: 10.1038/jhg.2015.5. Epub 2015 Jan 29. J Hum Genet. 2015. PMID: 25631096 Review.
De novo KCNT1 mutations in early-onset epileptic encephalopathy.
Ohba C, Kato M, Takahashi N, Osaka H, Shiihara T, Tohyama J, Nabatame S, Azuma J, Fujii Y, Hara M, Tsurusawa R, Inoue T, Ogata R, Watanabe Y, Togashi N, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N. Ohba C, et al. Among authors: nabatame s. Epilepsia. 2015 Sep;56(9):e121-8. doi: 10.1111/epi.13072. Epub 2015 Jul 3. Epilepsia. 2015. PMID: 26140313 Free article.
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Iwama K, Mizuguchi T, Takeshita E, Nakagawa E, Okazaki T, Nomura Y, Iijima Y, Kajiura I, Sugai K, Saito T, Sasaki M, Yuge K, Saikusa T, Okamoto N, Takahashi S, Amamoto M, Tomita I, Kumada S, Anzai Y, Hoshino K, Fattal-Valevski A, Shiroma N, Ohfu M, Moroto M, Tanda K, Nakagawa T, Sakakibara T, Nabatame S, Matsuo M, Yamamoto A, Yukishita S, Inoue K, Waga C, Nakamura Y, Watanabe S, Ohba C, Sengoku T, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Saitsu H, Matsuishi T, Goto YI, Matsumoto N. Iwama K, et al. Among authors: nabatame s. J Med Genet. 2019 Jun;56(6):396-407. doi: 10.1136/jmedgenet-2018-105775. Epub 2019 Mar 6. J Med Genet. 2019. PMID: 30842224
54 results