Genetics and Biomarkers of Moyamoya Disease: Significance of RNF213 as a Susceptibility Gene
Miki Fujimura, Shinya Sonobe, Yasuo Nishijima, Kuniyasu Niizuma, Hiroyuki Sakata, Shigeo Kure, Teiji Tominaga
J Stroke. 2014;16(2):65-72.   Published online 2014 May 30     DOI: https://doi.org/10.5853/jos.2014.16.2.65
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Akio Koizumi, Hatasu Kobayashi, Toshiaki Hitomi, Kouji H. Harada, Toshiyuki Habu, Shohab Youssefian
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Clinical manifestations of the onset and diagnostic problems in children with moyamoya disease
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Lorelei D. Shoemaker, Michael J. Clark, Anil Patwardhan, Gemma Chandratillake, Sarah Garcia, Rong Chen, Alexander A. Morgan, Nan Leng, Scott Kirk, Richard Chen, Douglas J. Cook, Michael Snyder, Gary K. Steinberg
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