Results 131 to 140 of about 24,268 (167)

[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

[A Case Report of Coexistence of EGFR and ROS-1 Gene Mutations 
in Non-small Cell Lung Cancer]. [PDF]

Zhongguo Fei Ai Za Zhi
Zhao J, Yu J, Fu Y, Zhao Y, Zhao M.
europepmc   +1 more source

[NDUFAF2 gene mutation presenting as primary pulmonary hypertension: a case report]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Yan XD, Chen YY, Tao L.
europepmc   +1 more source

[Frameshift mutation in RELT gene causes amelogenesis imperfecta]. [PDF]

Beijing Da Xue Xue Bao Yi Xue Ban
Zhang Z, Xu X, Gao X, Dong Y, Tian H.
europepmc   +1 more source

[A case of progressive ossifying myositis caused by ACVR1 gene mutation]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Xie SQ, Ding XF, Zhang B, Shi FX, Zhong LL, Huang H.   +5 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

[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

[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

[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

[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