Results 141 to 150 of about 158,813 (205)

[Glomerulopathy with fibronectin deposits caused by <i>FN1</i> gene mutation: A familial case report and literature review]. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Chen Q, Qin L, Luo Y, Liu Y, Guo F, Yang J.   +5 more
europepmc   +1 more source

[Two cases of Coffin-Siris syndrome type 3 caused by de novoSMARCB1 gene mutations]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Jin Y, Li MQ, Yang YL.
europepmc   +1 more source

Prenatal diagnosis and genetic analysis of novel missense mutation in <i>FVIII</i> gene. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Guo Y, Liu L, Mao B, Xie Z, Tian Q, Zhang C, Ma X.   +6 more
europepmc   +1 more source

[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 Zhi
Xiao Y, Li L, Lin K, Su D, Gao Y, Ma J, Zhang T.   +6 more
europepmc   +1 more source

[Clinical application value of detecting the mutation load of the FLT3-ITD gene before allogeneic hematopoietic stem cell transplantation using PCR-NGS technology]. [PDF]

Zhonghua Xue Ye Xue Za Zhi
Shao YC, Zhang YX, Sun WL, Lu H, Jiang CH, Wang LX, Huang JY, Zhang ZL, Lu HY, Pan ZK, Zhu WW, Hu XX.   +11 more
europepmc   +1 more source

[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 Zhi
Liu Y, Xiong W, Lu Y, Liang L, Yang K, Lan L, Han W, Ye Q, Wang M, Zhang Y, Tao F, Cao Z, Huang W, Yang X.   +13 more
europepmc   +1 more source

Bioinformatics analysis of a <i>CLCN5</i> geneframeshift mutation in a patient with Dent disease. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Zhang Y, Li N, Fan L, Liu J.
europepmc   +1 more source

[Application Value of Neoadjuvant Targeted Therapy in Patients with EGFR-mutant 
Resectable Lung Adenocarcinoma]. [PDF]

Zhongguo Fei Ai Za Zhi
Huang S, Fan M, Peng K, Yan W, Chen B, Wang W, Yang T, Chen K, Kang M, Xie J.   +9 more
europepmc   +1 more source

[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 Zhi
Wang Y, Zhao W, Yang C, Zhang R, Wang C, Han C, Li J.   +6 more
europepmc   +1 more source

[Construction of a prognosis forecasting model for immuno-therapy response in cancer patients by integrating routine clinical parameters and tumor mutational burden]. [PDF]

Zhejiang Da Xue Xue Bao Yi Xue Ban
Zhu X, Hao S, Cheng Z, Fang W.
europepmc   +1 more source