Results 151 to 160 of about 16,526 (215)

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

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

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

open access: yesZhongguo Dang Dai Er Ke Za Zhi, 2021
Yang SM   +4 more
europepmc   +1 more source

[Analysis and clinical characteristics of <i>SLC26A4</i> gene mutations in 72 cases of large vestibular aqueduct syndrome]. [PDF]

open access: yesLin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Liu Y   +13 more
europepmc   +1 more source

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

open access: yesZhongguo Dang Dai Er Ke Za Zhi, 2021
Wang X, Zhang BL, Chen XY, Guo Z.
europepmc   +1 more source

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

open access: yesZhongguo Dang Dai Er Ke Za Zhi
Xie SQ   +5 more
europepmc   +1 more source

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

open access: yesZhong 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

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