Results 131 to 140 of about 17,663 (166)

[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 and genetic characteristics of young patients with myeloproliferative neoplasms]. [PDF]

Zhonghua Xue Ye Xue Za Zhi, 2023
Zhang MY, Bao M, Shi DY, Shi HX, Liu XL, Xu N, Duan MH, Zhuang JL, Du X, Qin L, Hui WH, Liang R, Wang MF, Chen Y, Li DY, Yang W, Tang GS, Zhang WH, Kuang X, Su W, Han YQ, Chen LM, Xu JH, Liu ZG, Huang J, Zhao CT, Tong HY, Hu JD, Chen CY, Chen XQ, Xiao ZJ, Jiang Q.   +31 more
europepmc   +1 more source

[Heterogeneity in the regulation of cellular stress responses by <i>FUS</i> gene mutations associated with amyotrophic lateral sclerosis]. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Yu C, Zeng W, Meekrathok P, Bu Y, Wang J, Qiu J.   +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

[Analysis of 59 cases of large vestibular aqueduct syndrome SLC26A4gene mutation frequency and new mutation sites]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2023
Su D, Lou F, Huang R, Li X, Lin K, Li G, Ma J.   +6 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

Ulnar-Mammary syndrome with TBX3 gene mutation in a Chinese family: A case report and literature review. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban, 2022
Peng N, Guo M, Jiang T.
europepmc   +1 more source

[The role of AKT inhibitors combined with Ruxolitinib in ameliorating myeloproliferative disorders in mice with CALR gene mutations]. [PDF]

Zhonghua Xue Ye Xue Za Zhi
Zhang LW, Zhang QG, Ji MC, Qi KM, Li ZY, Xu KL, Fu CL.   +6 more
europepmc   +1 more source

Aromatase deficiency caused by mutation of CYP19A1 gene: A case report. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban, 2022
Li H, Fu S, Dai R, Sheng Z, Liu W.
europepmc   +1 more source

[A family report on congenital fibrosis of extraocular muscles syndrome caused by <i>TUBB3</i> gene mutation]. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Li M, Qi X, Li Y, Tong B.
europepmc   +1 more source