Xia K - Search Results

1

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.

Ahmed A, Wang M, Bergant G, Maroofian R, Zhao R, Alfadhel M, Nashabat M, AlRifai MT, Eyaid W, Alswaid A, Beetz C, Qin Y, Zhu T, Tian Q, Xia L, Wu H, Shen L, Dong S, Yang X, Liu C, Ma L, Zhang Q, Khan R, Shah AA, Guo J, Tang B, Leonardis L, Writzl K, Peterlin B, Guo H, Malik S, Xia K, Hu Z. Ahmed A, et al. Among authors: xia l, xia k. Hum Genet. 2021 Apr;140(4):579-592. doi: 10.1007/s00439-020-02226-3. Epub 2020 Oct 13. Hum Genet. 2021. PMID: 33048237

2

[A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing].

Luo W, Tang B, Zhao G, Xia K, Yang Y, Xiao J, Yan X, Xia J. Luo W, et al. Among authors: xia j, xia k. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2002 Oct;19(5):367-9. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2002. PMID: 12362307 Chinese.

3

A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree.

Xia J, Deng H, Feng Y, Zhang H, Pan Q, Dai H, Long Z, Tang B, Deng H, Chen Y, Zhang R, Zheng D, He Y, Xia K. Xia J, et al. Among authors: xia k. J Hum Genet. 2002;47(12):635-40. doi: 10.1007/s100380200098. J Hum Genet. 2002. PMID: 12522684

4

[Spastin gene mutation in Chinese patients with hereditary spastic paraplegia].

Zhao GH, Tang BS, Luo W, Xia K, Zhuang MY, Kong FB, Yan XX, Deng HX, Xiao JF, Xia JH. Zhao GH, et al. Among authors: xia k, xia jh. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Jun;20(3):177-80. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003. PMID: 12778437 Chinese.

5

Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia.

Tang B, Zhao G, Xia K, Pan Q, Luo W, Shen L, Long Z, Dai H, Zi X, Jiang H. Tang B, et al. Among authors: xia k. Arch Neurol. 2004 Jan;61(1):49-55. doi: 10.1001/archneur.61.1.49. Arch Neurol. 2004. PMID: 14732620

6

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24.

Tang BS, Luo W, Xia K, Xiao JF, Jiang H, Shen L, Tang JG, Zhao GH, Cai F, Pan Q, Dai HP, Yang QD, Xia JH, Evgrafov OV. Tang BS, et al. Among authors: xia k, xia jh. Hum Genet. 2004 May;114(6):527-33. doi: 10.1007/s00439-004-1102-1. Epub 2004 Mar 12. Hum Genet. 2004. PMID: 15021985

7

[A mutation IVS2+1G>A in EXT2 gene causes hereditary multiple exostoses].

Hu ZM, Zheng D, Pan Q, Yang YF, Zhao TL, Liu XP, Wu LQ, Jiang DG, Xia K, Xia JH. Hu ZM, et al. Among authors: xia k, xia jh. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Apr;21(2):97-100. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004. PMID: 15079787 Chinese.

8

A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

Xia K, Zheng D, Pan Q, Liu Z, Xi X, Hu Z, Deng H, Liu X, Jiang D, Deng H, Xia J. Xia K, et al. Among authors: xia j. Mol Vis. 2004 May 20;10:361-5. Mol Vis. 2004. PMID: 15162096 Free article.

9

A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family.

Tang B, Li H, Xia K, Jiang H, Pan Q, Shen L, Long Z, Zhao G, Cai F. Tang B, et al. Among authors: xia k. J Neurol Sci. 2004 Jun 15;221(1-2):31-4. doi: 10.1016/j.jns.2004.03.001. J Neurol Sci. 2004. PMID: 15178210

10

[Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease].

Zhang RX, Tang BS, Zi XH, Luo W, Xia K, Pan Q, Long ZG, Hu ZM, Li XB. Zhang RX, et al. Among authors: xia k. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Jun;21(3):207-10. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004. PMID: 15192818 Chinese.

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