Results 211 to 220 of about 38,595 (264)

PCR—SSCP—DNA序列分析法检测人肺癌中K—ras基因突变

, 1998
方清明, 李学明, 李健学, 梁曙光, 刘鸿君, 徐坤   +5 more
openalex   +1 more source

[Late-onset hereditary hearing loss caused by TMPRSS3 compound heterozygous mutations]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Wang Y, Liang Y, Huang B, Cen X, Huang L, Chen K.   +5 more
europepmc   +1 more source

[Spontaneous remission of acute myeloid leukemia with NPM1 mutation during pregnancy:a case report]. [PDF]

Zhonghua Xue Ye Xue Za Zhi
Zhang R, Zhang TS, Pan YL, Wang LL, Pang AB, Dou LP, Jing Y.   +6 more
europepmc   +1 more source

[Detection of pathogenic gene mutations in thirteen cases of congenital bilateral absence of vas deferens infertility patients]. [PDF]

Beijing Da Xue Xue Bao Yi Xue Ban
Tang Y, Zhang Y, Wu D, Lin Y, Lan F.
europepmc   +1 more source

Neonatal X-linked myotubular myopathy with a de novo mutation: A case report and literature review. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Hu Y, Huang X.
europepmc   +1 more source

Early-onset Parkinson's disease with mutations in both the PRKN gene and the APOB gene: A case report. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Bing S, Yi X, Tang X.
europepmc   +1 more source

[Advances in Diagnosis and Targeted Therapy of G719X/L861Q/S768I Mutant 
Non-small Cell Lung Cancer]. [PDF]

Zhongguo Fei Ai Za Zhi
Wang Y, Zheng J, Zhu Y, Zhou J.
europepmc   +1 more source

[Mutation spectrum analysis of 23-site chip neonatal deafness genetic screening]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Ruan Y, Cheng X, Zhang W, Zhao L, Xie J, Wen C, Li Y, Deng L, Huang L.   +8 more
europepmc   +1 more source

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MET 14外显子跳跃突变NSCLC靶向治疗专家共识

Zhongguo fei ai za zhi = Chinese journal of lung cancer, 2023
间质-上皮细胞转化因子（mesenchymal-epithelial transition factor, MET）14外显子跳跃突变主要由于c-Cbl酪氨酸结合位点丢失导致，从而引起蛋白酶体介导的MET蛋白降解率降低，引发下游通路的持续激活，最终导致肿瘤发生。非小细胞肺癌（non-small cell lung cancer, NSCLC）患者中MET 14外显子跳跃突变的发生率为0.9%-4.0%，晚期NSCLC患者应进行MET 14外显子跳跃突变的检测，以筛选MET抑制剂靶向治疗获益人群 ...
Jun Chen
semanticscholar   +1 more source

EGFR外显子20插入突变型NSCLC治疗的研究进展

Zhongguo fei ai za zhi = Chinese journal of lung cancer, 2023
肺癌已成为对人类健康威胁最大的肿瘤之一，死亡率位居肿瘤死因之首，非小细胞肺癌（non-small cell lung cancer, NSCLC）占肺癌的80%-85%，晚期NSCLC的治疗以化疗为主，但5年的生存率较低。表皮生长因子受体（epidermal growth factor receptor, EGFR）基因突变是肺癌中最常见的驱动基因变异，而EGFR外显子20插入（EGFR exon 20 insertions, EGFR ex20ins）突变型属于其中一种罕见突变 ...
Meiyi Xu, Jia-Wei Luo, Rui Xu
semanticscholar   +1 more source