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Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan.
Kimizu T, Ida S, Okamoto K, Awano H, Niba ETE, Wijaya YOS, Okazaki S, Shimomura H, Lee T, Tominaga K, Nabatame S, Saito T, Hamazaki T, Sakai N, Saito K, Shintaku H, Nozu K, Takeshima Y, Iijima K, Nishio H, Shinohara M. Kimizu T, et al. Among authors: tominaga k. Int J Neonatal Screen. 2021 Jul 20;7(3):45. doi: 10.3390/ijns7030045. Int J Neonatal Screen. 2021. PMID: 34287247 Free PMC article.
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: tominaga k. 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
Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement.
Eto K, Sakai N, Shimada S, Shioda M, Ishigaki K, Hamada Y, Shinpo M, Azuma J, Tominaga K, Shimojima K, Ozono K, Osawa M, Yamamoto T. Eto K, et al. Among authors: tominaga k. Am J Med Genet A. 2013 Dec;161A(12):3049-56. doi: 10.1002/ajmg.a.36156. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24039031
Prognostic factors for acute encephalopathy with bright tree appearance.
Azuma J, Nabatame S, Nakano S, Iwatani Y, Kitai Y, Tominaga K, Kagitani-Shimono K, Okinaga T, Yamamoto T, Nagai T, Ozono K. Azuma J, et al. Among authors: tominaga k. Brain Dev. 2015 Feb;37(2):191-9. doi: 10.1016/j.braindev.2014.04.001. Epub 2014 Apr 28. Brain Dev. 2015. PMID: 24787271
Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.
Tanigawa J, Mimatsu H, Mizuno S, Okamoto N, Fukushi D, Tominaga K, Kidokoro H, Muramatsu Y, Nishi E, Nakamura S, Motooka D, Nomura N, Hayasaka K, Niihori T, Aoki Y, Nabatame S, Hayakawa M, Natsume J, Ozono K, Kinoshita T, Wakamatsu N, Murakami Y. Tanigawa J, et al. Among authors: tominaga k. Hum Mutat. 2017 Jul;38(7):805-815. doi: 10.1002/humu.23219. Epub 2017 Apr 20. Hum Mutat. 2017. PMID: 28337824
1,322 results