Journal Papers 176 Related Insights 0
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 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 Share Save
Distinct genetic architecture of coronary heart disease in dyslipidemia patients 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 Share Save
New insights into HPDL protein: identification of a novel Bi-allelic variant, docking simulation study, and literature review Vaghefi, Fatemeh; Khosravi, Teymoor; Motallebi, Farzaneh; Zarghami, Sheyda; Al Sudani, Zainab M.; Rahimzadeh, Arian; Kowsari, Ali; Sefidbakht, Yahya; Dolatabadi, Alireza Kargar; Oladnabi, Morteza Share Save
Functional analysis of a novel splice site variant of RAB3GAP2 in a fetus with congenital cataracts Tan, Xuemei; Huang, Yuanyuan; Wei, Xiaobao; Lai, Qiurong; Pang, Lang; Lan, Jiquan; Liu, Qingnan; Qin, Jiangfeng; Zeng, Fangfang; Chen, Lizhu; Yuan, Dejian Share Save
Early-onset hereditary spastic paraplegia type 56 (SPG56): clinical-molecular correlations and functional validation of CYP2U1 variants 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 Share Save
Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis Li, Cui; Yang, Binyu; Li, Xu; Zhen, Shuai; Liu, Xiaogang; Li, Pingping; Chen, Wei; Wang, Xiaoyan; Xue, Mei Share Save
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