Liu XQ - Search Results

1

[Analysis of clinical and genetic characteristics of the severe liver disease phenotype in patients with hepatolenticular degeneration].

Xiao QQ, Xu YH, Xu X, Shi YW, Cao HX, Liu XQ, Fan JG. Xiao QQ, et al. Among authors: liu xq. Zhonghua Gan Zang Bing Za Zhi. 2024 Jun 20;32(6):551-557. doi: 10.3760/cma.j.cn501113-20230926-00122. Zhonghua Gan Zang Bing Za Zhi. 2024. PMID: 38964898 Chinese.

2

[Clinical and genetic analysis of two unrelated patients with Angelman syndrome and novel UBE3A mutations].

Xu H, Ji X, Xu Y, Liu X, Zhang J, Chen Y, Xiao B. Xu H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Dec 10;34(6):826-830. doi: 10.3760/cma.j.issn.1003-9406.2017.06.009. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 29188609 Chinese.

3

[Analysis of AGG interspersion of the FMR1 gene in fragile X syndrome].

Tang L, Xiao B, Xu Y, Ji X, Jiang W, Liu X, Tao J. Tang L, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Feb;32(1):11-5. doi: 10.3760/cma.j.issn.1003-9406.2015.01.003. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015. PMID: 25636091 Chinese.

4

Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities.

Xiao B, Qiu W, Ji X, Liu X, Huang Z, Liu H, Fan Y, Xu Y, Liu Y, Yie H, Wei W, Yan H, Gong Z, Shen L, Sun Y. Xiao B, et al. Am J Med Genet A. 2018 Jan;176(1):107-115. doi: 10.1002/ajmg.a.38542. Epub 2017 Nov 21. Am J Med Genet A. 2018. PMID: 29159939

5

[Genotype and phenotype correlation in Chinese patients with Wilson's Disease].

Liu XQ, Zhang YF, Liu TT, Gu XF, Hsiao KJ, Bao KR, Yu LH. Liu XQ, et al. Among authors: liu tt. Zhonghua Er Ke Za Zhi. 2003 Jan;41(1):35-8. Zhonghua Er Ke Za Zhi. 2003. PMID: 14761325 Chinese.

6

Prenatal diagnosis of Duchenne muscular dystrophy in 131 Chinese families with dystrophinopathy.

Wang H, Xu Y, Liu X, Wang L, Jiang W, Xiao B, Wei W, Chen Y, Ye W, Ji X. Wang H, et al. Prenat Diagn. 2017 Apr;37(4):356-364. doi: 10.1002/pd.5019. Epub 2017 Mar 6. Prenat Diagn. 2017. PMID: 28181689

7

Identification of novel SMN1 subtle mutations using an allelic-specific RT-PCR.

Xu Y, Xiao B, Liu Y, Qu XX, Dai MY, Ying XM, Jiang WT, Zhang JM, Liu XQ, Chen YW, Ji X. Xu Y, et al. Among authors: liu y, liu xq. Neuromuscul Disord. 2020 Mar;30(3):219-226. doi: 10.1016/j.nmd.2019.11.010. Epub 2019 Dec 25. Neuromuscul Disord. 2020. PMID: 32169315

8

Novel noncontiguous duplications identified with a comprehensive mutation analysis in the DMD gene by DMD gene-targeted sequencing.

Xu Y, Wang H, Xiao B, Wei W, Liu Y, Ye H, Ying X, Chen Y, Liu X, Ji X, Sun Y. Xu Y, et al. Gene. 2018 Mar 1;645:113-118. doi: 10.1016/j.gene.2017.12.037. Epub 2017 Dec 19. Gene. 2018. PMID: 29273555

9

Erratum to "Identification of novel SMN1 subtle mutations using an allelic-specific RT-PCR" [Neuromuscular Disorders, 30(3) 2020, 219-226].

Xu Y, Xiao B, Liu Y, Qu XX, Dai MY, Ying XM, Jiang WT, Zhang JM, Liu XQ, Chen YW, Ji X. Xu Y, et al. Among authors: liu y, liu xq. Neuromuscul Disord. 2021 Jan;31(1):e1. doi: 10.1016/j.nmd.2020.11.006. Epub 2020 Dec 1. Neuromuscul Disord. 2021. PMID: 33277158 No abstract available.

10

Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing.

Dai M, Xu Y, Sun Y, Xiao B, Ying X, Liu Y, Jiang W, Zhang J, Liu X, Ji X. Dai M, et al. Mol Genet Genomics. 2022 Jul;297(4):1039-1048. doi: 10.1007/s00438-022-01874-6. Epub 2022 May 25. Mol Genet Genomics. 2022. PMID: 35612622

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