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Oridonin inhibits DNMT3A R882 mutation-driven clonal hematopoiesis and leukemia by inducing apoptosis and necroptosis 期刊论文
CELL DEATH DISCOVERY, 2021, 卷号: 7, 期号: 1, 页码: 12
作者:  Liao, Min;  Dong, Qiongye;  Chen, Ruiqing;  Xu, Liqian;  Jiang, Yuxuan
收藏  |  浏览/下载:33/0  |  提交时间:2021/12/01
Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency 期刊论文
BIOMED RESEARCH INTERNATIONAL, 2019, 页码: 7
作者:  Zhao, Mei;  Hou, Lingling;  Teng, Huajing;  Li, Jinchen;  Wang, Jiesi
收藏  |  浏览/下载:59/0  |  提交时间:2019/06/12
Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76) 期刊论文
STEM CELL RESEARCH, 2019, 卷号: 34
作者:  Lu, Ying-qian;  Dong, En-lin;  Yang, Wei-qi;  Lai, Lu-lu;  Lin, Xiao-hong
收藏  |  浏览/下载:13/0  |  提交时间:2019/12/05
Compound heterozygous mutations in SMO associated with anterior segment dysgenesis and morning glory syndrome 期刊论文
GENE, 2019, 卷号: 713
作者:  Zhang, Jing;  Li, Yue;  Fan, Yidan;  Wu, Dan;  Xu, Jianjiang
收藏  |  浏览/下载:20/0  |  提交时间:2019/12/05
Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsy 期刊论文
Clinica Chimica Acta, 2019, 卷号: Vol.493, 页码: 87-91
作者:  Libin Mei;  Yanru Huang;  Jing Chen;  XueMei He;  Shaobin Lin
收藏  |  浏览/下载:12/0  |  提交时间:2019/12/13
Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsy 期刊论文
Clinica Chimica Acta, 2019
作者:  Libin Mei;  Yanru Huang;  Jing Chen;  XueMei He;  Shaobin Lin
收藏  |  浏览/下载:22/0  |  提交时间:2019/12/13
Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1 期刊论文
STEM CELL RESEARCH, 2019, 卷号: 39
作者:  Zhang, Haiyan;  Ma, Yanyan;  Song, Fengling;  Yang, Xiaomeng;  Li, Yue
收藏  |  浏览/下载:9/0  |  提交时间:2019/12/11
An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene 期刊论文
STEM CELL RESEARCH, 2019, 卷号: 40
作者:  Li, Yue;  Zhang, Haiyan;  Yan, Beibei;  Ma, Yanyan;  Yang, Xiaomeng
收藏  |  浏览/下载:10/0  |  提交时间:2019/12/11
Compound heterozygous mutations in PARK2 causing early-onset Parkinson disease A case report 期刊论文
MEDICINE, 2019, 卷号: 98, 期号: 5
作者:  Fang, Yu-Qing;  Mao, Fei;  Zhu, Mei-Jia;  Li, Xiu-Hua
收藏  |  浏览/下载:3/0  |  提交时间:2019/12/11
Compound heterozygous mutations in WFS1 cause atypical Wolfram syndrome 期刊论文
2019
作者:  Pan Yun-Di;  Fu Jun-Ling;  Xiao Xin-Hua
收藏  |  浏览/下载:4/0  |  提交时间:2020/01/03


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