Results 161 to 170 of about 38,595 (264)
[Mechanisms of enhanced noise susceptibility in waardenburg syndrome <i>Sox10 p.S100Rfs*9</i> mutant mice]. [PDF]
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za ZhiXiao Y +6 more
europepmc +1 more source
Zhongshan Daxue xuebao. Yixue kexue ban, 2014 摘 要： 【目的】 探讨肌萎缩侧索硬化症基因ＴＤＰ４３致病突变对斑马鱼毒性的影响。【方法】 以野生型ＡＢ系斑马鱼作为研究对象，构建携带红色荧光蛋白（ＲＦＰ）的ＴＤＰ４３基因野生型（ＷＴ）和突变型（Ｓ２９２Ｎ）质粒，通过显微注射法转染斑马鱼单细胞期胚胎，建立转基因斑马鱼模型。通过比较正常ＡＢ系斑马鱼、ＴＤＰ４３－ＷＴ转基因斑马鱼以及ＴＤＰ４３－Ｓ２９２Ｎ基因突变斑马鱼的胚胎发育、运动能力等，探讨ＴＤＰ４３基因突变的毒性作用。【结果】通过显微注射，成功获得表达红色荧光的ＴＤＰ４３－ＷＴ及ＴＤＰ４３ ...
doaj
[Analysis and clinical characteristics of <i>SLC26A4</i> gene mutations in 72 cases of large vestibular aqueduct syndrome]. [PDF]
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za ZhiLiu Y +13 more
europepmc +1 more source
[Mutation pedigree and treatment selection of Erdheim-Chester disease]. [PDF]
Zhonghua Xue Ye Xue Za Zhi, 2023 Lang M, Zhou DB, Cao XX.
europepmc +1 more source
A Case Report of Erlotinib as First-line Therapy in Extensive Metastatic Patient with Advanced Non-small Cell Lung Cancer [PDF]
, 2009 Wanfeng GUO, Xiaoqing LIU
core
Zhongshan Daxue xuebao. Yixue kexue ban, 2015 【目的】 报告1例远端型遗传性运动神经元病 ( dHMN) 家系,对家系进行分子遗传学研究,探寻致病基因,并探讨全基因组外显子测序在临床诊断和研究中的应用价值?【方法】 对该家系进行临床及电生理检查,在排除与临床诊断相关已知基因的突变后,先对该家系的先证者和另一旁支的患者进行全基因组外显子测序?生物信息学分析,然后对采集到血样的22名家系成员,包括10例患者进行突变筛查及突变与疾病共分离分析?【结果】 全基因组外显子测序?突变筛查及突变与疾病共分离分析结果显示该家系先证者和患者BSCL2 ...
doaj
[A Case of Metastatic Non-small Cell Lung Cancer with Rare BRAF p.L485_T488delinsF Mutation Treated with Dabrafenib and Trametinib]. [PDF]
Zhongguo Fei Ai Za ZhiWang Y +6 more
europepmc +1 more source