Liu H - Search Results

1

A rare complex rearrangement in the β-globin gene cluster causing a novel homozygous ^G γ(^A γδβ)⁰ -thalassemia.

Zhang X, Yang Y, Zhang H, Du Z, Liu H, Shen Y. Zhang X, et al. Among authors: liu h. Am J Hematol. 2021 Jun 1;96(6):E189-E193. doi: 10.1002/ajh.26148. Epub 2021 Mar 22. Am J Hematol. 2021. PMID: 33651897 Free article. No abstract available.

2

[Application of multiple quantitative fluorescence polymerase chain reaction approach for rapid prenatal diagnosis of common chromosome aneuploidies].

Hu T, Liu H, Zhu H, Wang J, Zhang H, Zhu Q, Lai Y, Qin L, Wang H, Liu S. Hu T, et al. Among authors: liu h, liu s. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Apr;31(2):214-8. doi: 10.3760/cma.j.issn.1003-9406.2014.02.019. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014. PMID: 24711035 Chinese.

3

[Analysis of heterozygous duplication of PMP22 gene in a pedigree affected with Charcot Marie Tooth disease].

Liao H, Zhang H, Liu H, Liu S, Wang H. Liao H, et al. Among authors: liu h, liu s. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Oct;33(5):649-52. doi: 10.3760/cma.j.issn.1003-9406.2016.05.015. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016. PMID: 27577214 Chinese.

4

[Application of chromosomal microarray analysis for the diagnosis of children with intellectual disability/developmental delay and a normal karytype].

Hu T, Zhu H, Zhang Z, Wang J, Liu H, Zhang X, Zhang H, Du Z, Li L, Wang H, Liu S. Hu T, et al. Among authors: liu h, liu s. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):169-172. doi: 10.3760/cma.j.issn.1003-9406.2017.02.003. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 28397211 Chinese.

5

[Application of chromosomal microarray analysis in prenatal diagnosis for fetal abnormalities detected by ultrasonography].

Hu T, Wang J, Zhang Z, Zhu H, Liu H, Zhang X, Zhang H, Du Z, Li L, Wang H, Liu S. Hu T, et al. Among authors: liu h, liu s. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Jun 10;34(3):317-320. doi: 10.3760/cma.j.issn.1003-9406.2017.03.001. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 28604946 Chinese.

6

[Analysis of DYSF gene mutations in two pedigrees affected with limb-girdle muscular dystrophy type 2B].

Liu Z, Liao H, Zhang X, Zhang H, Liu H, Wang H, Liu S. Liu Z, et al. Among authors: liu h, liu s. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Aug 10;35(4):498-501. doi: 10.3760/cma.j.issn.1003-9406.2018.04.008. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 30098242 Chinese.

7

A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.

Liu M, Zhang X, Liu H, Shen Y. Liu M, et al. Among authors: liu h. Mol Genet Genomic Med. 2020 Sep;8(9):e1392. doi: 10.1002/mgg3.1392. Epub 2020 Jun 25. Mol Genet Genomic Med. 2020. PMID: 32583964 Free PMC article.

8

Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings.

Wang X, Zhang Z, Zhang X, Shen Y, Liu H. Wang X, et al. Among authors: liu h. Hum Genomics. 2020 Jun 29;14(1):26. doi: 10.1186/s40246-020-00274-4. Hum Genomics. 2020. PMID: 32600475 Free PMC article.

9

Loss-of-function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella.

Yang Y, Jiang C, Zhang X, Liu X, Li J, Qiao X, Liu H, Shen Y. Yang Y, et al. Among authors: liu x, liu h. Clin Genet. 2020 Oct;98(4):396-401. doi: 10.1111/cge.13815. Epub 2020 Jul 30. Clin Genet. 2020. PMID: 32681648

10

Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia.

Yang Y, Wang Y, Shen Y, Liu M, Dai S, Wang X, Liu H. Yang Y, et al. Among authors: liu h, liu m. Front Genet. 2022 Feb 17;13:792183. doi: 10.3389/fgene.2022.792183. eCollection 2022. Front Genet. 2022. PMID: 35251124 Free PMC article.

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