Liu H - Search Results

1

Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population.

Qin L, Lou G, Guo L, Zhang Y, Wang H, Wang L, Hou Q, Liu H, Li X, Liao S. Qin L, et al. Among authors: liu h. Sci Rep. 2018 Aug 24;8(1):12721. doi: 10.1038/s41598-018-30940-6. Sci Rep. 2018. PMID: 30143665 Free PMC article.

2

A novel MIP mutation in familial congenital nuclear cataracts.

Qin L, Guo L, Wang H, Li T, Lou G, Guo Q, Hou Q, Liu H, Liao S, Liu Z. Qin L, et al. Among authors: liu z, liu h. Eur J Med Genet. 2016 Sep;59(9):488-91. doi: 10.1016/j.ejmg.2016.07.002. Epub 2016 Jul 22. Eur J Med Genet. 2016. PMID: 27456987

3

[Mutation analysis for a large Chinese family affected with MYH9-related thrombocytopenia].

Liu H, Li T, Wang H, Guo L, Wu D, Xiao H, Guo Q, Wang T. Liu H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Oct;33(5):629-32. doi: 10.3760/cma.j.issn.1003-9406.2016.05.010. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016. PMID: 27577209 Chinese.

4

[Genetic and prenatal diagnosis for a haemophilia A family with two novel mutations of F8 gene].

Li T, Hou Q, Liu H, Xiao H, Zhang B, Liu S, Yang Y, Zhang C, Ding X, Liao S. Li T, et al. Among authors: liu h, liu s. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Aug 10;34(4):486-489. doi: 10.3760/cma.j.issn.1003-9406.2017.04.004. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 28777843 Chinese.

5

Novel heterozygous mutations of the INSR gene in a familial case of Donohue syndrome.

Qin L, Li X, Hou Q, Wang H, Lou G, Li T, Wang L, Liu H, Li X, Liao S. Qin L, et al. Among authors: liu h. Clin Chim Acta. 2017 Oct;473:26-31. doi: 10.1016/j.cca.2017.08.007. Epub 2017 Aug 10. Clin Chim Acta. 2017. PMID: 28803747

6

Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family.

Liu HY, Xiao JF, Huang J, Wang Y, Wu D, Li T, Wang HD, Guo LJ, Guo QN, Xiao H, Lyu X, Yu ZH. Liu HY, et al. Chin Med J (Engl). 2017 Jan 5;130(1):104-107. doi: 10.4103/0366-6999.196568. Chin Med J (Engl). 2017. PMID: 28051032 Free PMC article. No abstract available.

7

Prenatal diagnosis for a Chinese family with a de novo DMD gene mutation: A case report.

Li T, Zhang ZJ, Ma X, Lv X, Xiao H, Guo QN, Liu HY, Wang HD, Wu D, Lou GY, Wang X, Zhang CY, Liao SX. Li T, et al. Among authors: liu hy. Medicine (Baltimore). 2017 Dec;96(50):e8814. doi: 10.1097/MD.0000000000008814. Medicine (Baltimore). 2017. PMID: 29390271 Free PMC article.

8

[Genetic diagnosis for a family without exonic deletions and duplications of dystrophin gene].

Li T, Hou Q, Wu D, Wang H, Liu H, Yang Y, Zhang C, Ding X, Liao S. Li T, et al. Among authors: liu h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Feb;32(1):81-4. doi: 10.3760/cma.j.issn.1003-9406.2015.01.018. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015. PMID: 25636107 Chinese.

9

[Association of SPO11 and GST gene polymorphisms with idiopathic male infertility in ethnic Han Chinese].

Feng Z, Jing Z, Liu H, Liao S, Guo L, Mao C, Liu Y, Wu H, Gao J. Feng Z, et al. Among authors: liu y, liu h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Dec;32(6):866-70. doi: 10.3760/cma.j.issn.1003-9406.2015.06.025. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015. PMID: 26663067 Chinese.

10

[Hereditary spherocytosis due to a novel c.5798+1G>A variant of the SPTB gene].

Liu H, Huang J, Jiang Y, Guo L, Xiao H, Wang H. Liu H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jan 10;37(1):17-20. doi: 10.3760/cma.j.issn.1003-9406.2020.01.005. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 31922588 Chinese.

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