Results 141 to 150 of about 19,323 (198)

D-bifunctional protein deficiency caused by HSD17B4 gene mutation in a neonate. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi, 2021
Yang SM, Cao CD, Ding Y, Wang MJ, Yue SJ.   +4 more
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

Cystinosis induced by CTNS gene mutation: a rare disease study. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi, 2021
Wang X, Zhang BL, Chen XY, Guo Z.
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

Clinical features and CACNA1A gene mutation in a family with episodic ataxia type 2. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban, 2022
Xu Y, Wang Z, Sun Q, Zhou L, Xu H, Hu Y.
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

Snijders Blok-Campeau syndrome caused by CHD3 gene mutation: a case report. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi, 2021
Fan XY.
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

Relationship of PI3K-Akt/mTOR/AMPK signaling pathway genetic mutation with efficacy and prognosis in nasopharyngeal carcinoma. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban, 2022
Chen Y, He Q, Ma H, Zhang L, Liu F, Han Y.   +5 more
europepmc   +1 more source

[Childhood acute lymphoblastic leukemia with CREBBP gene mutation: a clinical analysis of 14 cases]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Jia XP, Lian AN, Cui DD, Tao YQ, Zhu P, Qi WJ, Wang CM.   +6 more
europepmc   +1 more source