Hu Z - Search Results

1

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K. Guo H, et al. Among authors: hu z. Am J Hum Genet. 2020 Nov 5;107(5):963-976. doi: 10.1016/j.ajhg.2020.10.002. Am J Hum Genet. 2020. PMID: 33157009 Free PMC article.

2

[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. 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.

3

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: hu z. Mol Vis. 2004 May 20;10:361-5. Mol Vis. 2004. PMID: 15162096 Free article.

4

[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. 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.

5

Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27.1 in a Chinese family.

Zhang B, Xia K, Ding M, Liang D, Liu Z, Pan Q, Hu Z, Wu LQ, Cai F, Xia J. Zhang B, et al. Among authors: hu z. Hum Genet. 2005 Jan;116(1-2):128-31. doi: 10.1007/s00439-004-1188-5. Epub 2004 Oct 23. Hum Genet. 2005. PMID: 15517395

6

[Mutation screening in selected exons of myosin 7a gene in prelingual non-syndromic hearing impairment patients].

Hu P, Xie DH, Xiao ZA, Wu WJ, Ge SL, Hu ZM, Xia K. Hu P, et al. Zhonghua Er Bi Yan Hou Ke Za Zhi. 2004 Sep;39(9):538-42. Zhonghua Er Bi Yan Hou Ke Za Zhi. 2004. PMID: 15606003 Chinese.

7

[ATM gene mutations in Chinese patients with ataxia telangiectasia].

Jiang H, Tang B, Hu Z, Xia K, Xu B, Tang J, Shen L. Jiang H, et al. Among authors: hu z. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Apr;22(2):121-4. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005. PMID: 15793768 Chinese.

8

[Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome].

Zhang Y, Tang B, Guo J, Long Z, Xia K, Pan Q, Hu Z, Wu D, Tang J, Chen T, Yan X. Zhang Y, et al. Among authors: hu z. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Apr;22(2):189-91. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005. PMID: 15793782 Chinese.

9

[Research on clinical characteristics and ATM gene mutations in Chinese patients with ataxia-telangiectasia].

Jiang H, Tang BS, Hu ZM, Xia K, Xu B, Tang JG. Jiang H, et al. Zhonghua Yi Xue Za Zhi. 2005 Apr 27;85(16):1117-20. Zhonghua Yi Xue Za Zhi. 2005. PMID: 16029571 Chinese.

10

Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease.

Zhang FF, Tang BS, Zhao GH, Chen B, Zhang C, Luo W, Liu XM, Xia K, Cai F, Hu ZM, Yan XX, Zhang RX, Guo P. Zhang FF, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Aug;22(4):361-3. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005. PMID: 16086267

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