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Long-term safety and efficacy of triheptanoin in Korean patients with long-chain fatty acid oxidation disorders: a prospective, open-label, single-center, phase II clinical study 长期安全性和有效性：三庚酸甘油酯在韩国长链脂肪酸氧化障碍患者中的应用——一项前瞻性、开放标签、单中心、II期临床研究 Yoon, Ji-Hee; Park, Jun-Hong; Kim, Dohyung; Hwang, Soojin; Park, Jiyeon; Kim, Ja Hye; Choi, Sukyoung; Ko, Eunjae; Lee, Byung Joo; Moon, Yeji; Lee, Beom Hee 分享 收藏
Distinct genetic architecture of coronary heart disease in dyslipidemia patients 血脂异常患者冠状动脉心脏病独特的遗传结构 Huang, Man; Song, Xiuli; Zhou, Shuni; Zhang, Haiyan; He, Lijuan; Chen, Yanghui; Chen, Guangzhi; Ding, Hu; Jiang, Jiangang; Wang, Yan; Wang, Dao Wen; Sun, Yang; Wang, Hong 分享 收藏
New insights into HPDL protein: identification of a novel Bi-allelic variant, docking simulation study, and literature review 对HPDL蛋白的新见解：新型双等位基因变异体的鉴定、对接模拟研究及文献综述 Vaghefi, Fatemeh; Khosravi, Teymoor; Motallebi, Farzaneh; Zarghami, Sheyda; Al Sudani, Zainab M.; Rahimzadeh, Arian; Kowsari, Ali; Sefidbakht, Yahya; Dolatabadi, Alireza Kargar; Oladnabi, Morteza 分享 收藏
Functional analysis of a novel splice site variant of RAB3GAP2 in a fetus with congenital cataracts 一种新型RAB3GAP2剪接位点变异在先天性白内障胎儿中的功能分析 Tan, Xuemei; Huang, Yuanyuan; Wei, Xiaobao; Lai, Qiurong; Pang, Lang; Lan, Jiquan; Liu, Qingnan; Qin, Jiangfeng; Zeng, Fangfang; Chen, Lizhu; Yuan, Dejian 分享 收藏
Early-onset hereditary spastic paraplegia type 56 (SPG56): clinical-molecular correlations and functional validation of CYP2U1 variants 早发型遗传性痉挛性截瘫痊56型（SPG56）：临床-分子相关性及CYP2U1变异的功能验证 Sustrova, Eva; Rihova, Kamila; Pokorna, Petra; Havlova, Veronika; Stiborek, Marek; Simek, Zdenek; Damborsky, Jiri; Horak, Ondrej; Kozelkova, Katerina; Hlouskova, Eliska; Demlova, Regina; Kubatova, Jana; Slaby, Ondrej; Slaba, Katerina 分享 收藏
Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis 全面识别和验证NR5A1和DHX37变异对46,XY性发育异常诊断的影响 Li, Cui; Yang, Binyu; Li, Xu; Zhen, Shuai; Liu, Xiaogang; Li, Pingping; Chen, Wei; Wang, Xiaoyan; Xue, Mei 分享 收藏
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