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Diagnostic value of nerve conduction study in NOTCH2NLC-related neuronal intranuclear inclusion disease.
Tian Y, Hou X, Cao W, Zhou L, Jiao B, Zhang S, Xiao Q, Xue J, Wang Y, Weng L, Fang L, Yang H, Zhou Y, Yi F, Chen X, Du J, Xu Q, Feng L, Liu Z, Zeng S, Sun Q, Xie N, Luo M, Wang M, Zhang M, Zeng Q, Huang S, Yao L, Hu Y, Long H, Xie Y, Chen S, Huang Q, Wang J, Xie B, Zhou L, Long L, Guo J, Wang J, Yan X, Jiang H, Xu H, Duan R, Tang B, Zhang R, Shen L. Tian Y, et al. Among authors: du j. J Peripher Nerv Syst. 2023 Dec;28(4):629-641. doi: 10.1111/jns.12599. Epub 2023 Oct 3. J Peripher Nerv Syst. 2023. PMID: 37749855 Review.
A DMD case caused by X chromosome rearrangement.
Hu H, Yang XW, Cheng DH, Li XR, He WB, Hu X, Gao BD, Zhao XM, Zhang QJ, Du J, Liu JY, Lu GX, Ge L, Li W. Hu H, et al. Among authors: du j. Yi Chuan. 2023 Jan 20;45(1):88-95. doi: 10.16288/j.yczz.22-179. Yi Chuan. 2023. PMID: 36927641
Novel homozygous variants in TTC12 cause male infertility with asthenoteratozoospermia owing to dynein arm complex and mitochondrial sheath defects in flagella.
Meng L, Liu Q, Tan C, Xu X, He W, Hu T, Tu C, Li Y, Du J, Zhang Q, Lu G, Fan LQ, Lin G, Nie H, Zhang H, Tan YQ. Meng L, et al. Among authors: du j. Front Cell Dev Biol. 2023 Jun 1;11:1184331. doi: 10.3389/fcell.2023.1184331. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37325566 Free PMC article.
15,478 results
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