CORC

在结果中检索

CORC

浏览/检索结果: 共33条，第1-10条 帮助

已选(0)清除 条数/页：   排序方式：
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
A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord">A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord 期刊论文
JOURNAL OF HUMAN GENETICS, 2019, 卷号: 64, 期号: 10, 页码: 979-983
作者:  Song, Chengyuan;  Peng, Linliu;  Wang, Shengjun;  Liu, Yiming
收藏  |  浏览/下载：15/0  |  提交时间：2019/12/11
Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct 期刊论文
CLINICAL AND EXPERIMENTAL OTORHINOLARYNGOLOGY, 2019, 卷号: Vol.12 No.1, 页码: 50
作者:  Yu, Yongbo;  Yang, Yang;  Lu, Jie;  Jin, Yaqiong;  Yang, Yeran
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/17
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
Novel SLCO2A1compound heterozygous mutation causing primary hypertrophic osteoarthropathy with Bartter-like hypokalemia in a Chinese family 期刊论文
2019, 卷号: 42, 期号: 10, 页码: 1245-1252
作者:  Jiang Y;  Du J;  Song Y-W;  Wang W-B;  Pang Q-Q
收藏  |  浏览/下载：5/0  |  提交时间：2020/01/03
A Novel GJB2 compound heterozygous mutation c.257C > G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family 期刊论文
JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2018, 卷号: 32, 期号: 7
作者:  Shi, Xi;  Zhang, Yan;  Qiu, Shiwei;  Zhuang, Wei;  Yuan, Na
收藏  |  浏览/下载：15/0  |  提交时间：2019/12/05
Whole-exome sequencing identifies rare compound heterozygous mutations in the MYBPC3 gene associated with severe familial hypertrophic cardiomyopathy 期刊论文
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2018, 卷号: 61, 期号: 8
作者:  Zhou, Nianwei;  Qin, Shengmei;  Li, Yili;  Tang, Lu;  Zha, Weipeng
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/05
Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration A case report 期刊论文
MEDICINE, 2018, 卷号: 97, 期号: 15
作者:  Shi, Xulai;  Zheng, Feixia;  Ye, Xiuyun;  Li, Xiucui;  Zhao, Qianlei
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/11
Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia A case report 期刊论文
MEDICINE, 2018, 卷号: 97, 期号: 44
作者:  Feng, Bangzhe;  Sun, Guangfei;  Kong, Qingxia;  Li, Qiubo
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/11

©版权所有 ©2017 CSpace - Powered by CSpace