Results 131 to 140 of about 197,693 (195)

[Niemann-Pick disease with two missense mutations in SMPD1 gene: a case report and literature review]. [PDF]

Zhonghua Xue Ye Xue Za Zhi
Wei Y, Guo H, Xu JN, Chen YY, Shi HX.
europepmc   +1 more source

Integrative analytical and statistical framework for optimization of multiplex qPCR detection of <i>TGFBI</i> mutations in refractive surgery candidates. [PDF]

J Zhejiang Univ Sci B
Gu Y, Mao L, Li X, Sun K, Jiang Q, Wu W, Shen Y, Chen S, Zheng M, Xu Y.   +9 more
europepmc   +1 more source

[Efficacy and safety analysis of avapritinib in children with RUNX1::RUNX1T1 positive-acute myeloid leukemia with KIT mutations]. [PDF]

Zhonghua Xue Ye Xue Za Zhi
Zheng FY, Ding MM, Lu AD, Jia YP, Zeng HM, Zhang LP.   +5 more
europepmc   +1 more source

[Pathogenic mechanisms of Leber hereditary optic neuropathy caused by m.3472T>C mutation]. [PDF]

Zhejiang Da Xue Xue Bao Yi Xue Ban
Zhang H, Shan W, Yasheng M, Guan M.
europepmc   +1 more source

[Clinicopathological, Genomic Characteristics and Prognostic Analysis in 18 Cases 
of SMARCA4-deficient or SMARCA4-mutated Pulmonary Tumors]. [PDF]

Zhongguo Fei Ai Za Zhi
Liu C, Yang J, Meng F, Zhang L, Wang X, Yu T, Zhong D.   +6 more
europepmc   +1 more source

[Trastuzumab Deruxtecan for EGFR-mutant Lung Adenocarcinoma
with Acquired High-level HER2 Amplification: A Case Report]. [PDF]

Zhongguo Fei Ai Za Zhi
Ge X, Chen H, Cui S.
europepmc   +1 more source

[<i>PIK3CA</i> Somatic Mutations Are Associated With Lymph Node Metastasis in Endometrial Cancer]. [PDF]

Sichuan Da Xue Xue Bao Yi Xue Ban
Shen Q, Tian C, Luo X, Yang F, Jiang P, Zheng Y.   +5 more
europepmc   +1 more source

[Compound heterozygous plasminogen mutations causing hereditary plasminogen deficiency: a family study and mechanistic analysis]. [PDF]

Zhonghua Xue Ye Xue Za Zhi
Lu YF, Yu DD, Xu QY, Wang FJ, Qin LY, Wang MS, Yang LL.   +6 more
europepmc   +1 more source

[Research Progress in Imaging Investigation of TERT Promoter Mutations in Gliomas]. [PDF]

Sichuan Da Xue Xue Bao Yi Xue Ban
Zhong Y, Ma X, Duan Q, Lu H, Lyu J, Lou X.   +5 more
europepmc   +1 more source

[Advances in Targeted Therapy for Advanced Non-small Cell Lung Cancer 
with HER2 Mutation]. [PDF]

Zhongguo Fei Ai Za Zhi
Yu J, Cao B.
europepmc   +1 more source