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"Nakatomi, Akiko" のプロフィール: 4件

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発行 タイトル 著者 ダウンロード数
2017-07-01 Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation Dateki, Sumito; Nakatomi, Akiko; Watanabe, Satoshi; Shimizu, Hitomi; Inoue, Yukiko; Baba, Hideo; Yoshiura, Koh-ichiro; Moriuchi, Hiroyuki 20
2017-10-01 Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver–Russell syndrome Dateki, Sumito; Kagami, Masayo; Matsubara, Keiko; Izumi, Kei; Watanabe, Satoshi; Nakatomi, Akiko; Kondoh, Tatsuro; Fukami, Maki; Moriuchi, Hiroyuki 4
2012-01 Partial internal biliary diversion for patients with progressive familial intrahepatic cholestasis type 1. Mochizuki, Kyoko; Obatake, Masayuki; Takatsuki, Mitsuhisa; Nakatomi, Akiko; Hayashi, Tomayoshi; Okudaira, Sadayuki; Eguchi, Susumu 794
2013-09-19 SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China Song, Yuan-Zong; Zhang, Zhan-Hui; Lin, Wei-Xia; Zhao, Xin-Jing; Deng, Mei; Ma, Yan-Li; Guo, Li; Chen, Feng-Ping; Long, Xiao-Ling; He, Xiang-Ling; Sunada, Yoshihide; Soneda, Shun; Nakatomi, Akiko; Dateki, Sumito; Ngu, Lock-Hock; Kobayashi, Keiko; Saheki, Takeyori 390

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