Z. Hu

发表

Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families

K. Xia, B. Tang, B. Tang, 2017, Clinical genetics.

Mutation in PITX2 is associated with ring dermoid of the cornea

K. Xia, Q. Pan, L. Wu, 2004, Journal of Medical Genetics.

Bioinformatics analysis of candidate genes and mutations in a congenital sensorineural hearing loss pedigree: detection of 52 genes for the DFNA52 locus

K. Xia, Y. Feng, J. Xia, 2008, The Journal of Laryngology & Otology.

Exome sequencing identifies UPF3B as the causative gene for a Chinese non‐syndrome mental retardation pedigree

Y. Zheng, K. Xia, Z. Xiong, 2013, Clinical genetics.

Experimental study on TGF-β1-mediated CD147 expression in oral submucous fibrosis.

Y. Hu, K. Xia, C. Wang, 2018, Oral diseases.

Novel FLG mutations associated with ichthyosis vulgaris in the Chinese population

K. Xia, Z. Xiong, L. Zhang, 2012, Clinical and experimental dermatology.

SPG35 contributes to the second common subtype of AR‐HSP in China: frequency analysis and functional characterization of FA2H gene mutations

K. Xia, Q. Pan, X. Yan, 2015, Clinical genetics.

Homozygous loss‐of‐function mutation of the LEPREL1 gene causes severe non‐syndromic high myopia with early‐onset cataract

Y. Zheng, K. Xia, Q. Pan, 2014, Clinical genetics.

Novel mutations in mevalonate kinase cause disseminated superficial actinic porokeratosis

D. Tian, K. Xia, Z. Xiong, 2019, The British journal of dermatology.