Wang L - Search Results

1

Amino acid 118 in the Deafness Causing (DFNA20/26) ACTG1 gene is a Mutational Hot Spot.

Wang L, Yan D, Qin L, Li T, Liu H, Li W, Mittal R, Yong F, Chapagain P, Liao S, Liu X. Wang L, et al. Gene Rep. 2018 Jun;11:264-269. doi: 10.1016/j.genrep.2018.04.011. Epub 2018 Apr 28. Gene Rep. 2018. PMID: 30599039 Free PMC article.

2

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.

Wang L, Qin L, Li T, Liu H, Ma L, Li W, Wu D, Wang H, Guo Q, Guo L, Liao S. Wang L, et al. Among authors: wang h. Mol Med Rep. 2018 Jan;17(1):172-178. doi: 10.3892/mmr.2017.7874. Epub 2017 Oct 25. Mol Med Rep. 2018. PMID: 29115496 Free PMC article.

3

A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.

Wang L, Feng Y, Yan D, Qin L, Grati M, Mittal R, Li T, Sundhari AK, Liu Y, Chapagain P, Blanton SH, Liao S, Liu X. Wang L, et al. Hum Genet. 2018 Jul;137(6-7):437-446. doi: 10.1007/s00439-018-1895-y. Epub 2018 Jun 2. Hum Genet. 2018. PMID: 29860631 Free PMC article.

4

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: wang h, wang l. Sci Rep. 2018 Aug 24;8(1):12721. doi: 10.1038/s41598-018-30940-6. Sci Rep. 2018. PMID: 30143665 Free PMC article.

5

Genetic screening revealed usher syndrome in a paediatric Chinese patient.

Qu C, Liang F, Long Q, Zhao M, Shang H, Fan L, Wang L, Foster J 2nd, Yan D, Liu X. Qu C, et al. Among authors: wang l. Hearing Balance Commun. 2017;15(2):98-106. doi: 10.1080/21695717.2017.1321217. Epub 2017 May 4. Hearing Balance Commun. 2017. PMID: 30800556 Free PMC article.

6

[Genetic analysis and prenatal diagnosis for non-syndromic hearing impairment].

Wang L, Zhao HR, Liao S, Yang YL, Li T, Zhang B, Ding XB, Ma S, Liu HJ. Wang L, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Oct;30(5):518-21. doi: 10.3760/cma.j.issn.1003-9406.2013.05.003. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013. PMID: 24078562 Chinese.

7

[Identification of two novel Parkin gene mutations in a patient affected with Juvenile Parkinson's syndrome].

Wang L, Lou G, Bian S, Qin L, Yang K, Zhang B, Liao S. Wang L, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Apr 10;36(4):344-347. doi: 10.3760/cma.j.issn.1003-9406.2019.04.013. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 30950022 Chinese.

8

[The EXT2 gene mutation in a family with hereditary multiple exostoses].

Yao F, Wang Y, Liao S, Wang L, Wang T, Kang B. Yao F, et al. Among authors: wang l, wang y, wang t. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Feb;27(1):92-5. doi: 10.3760/cma.j.issn.1003-9406.2010.01.020. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010. PMID: 20140877 Chinese.

9

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: wang h, wang l. 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

10

[Efficiency of multiplex ligation-dependent probe amplification combined with short tandem repeat linkage analysis for the prenatal diagnosis for Duchenne muscular dystrophy].

Li T, Wu D, Hou QF, Wang L, Guo QN, Kang B, Liu HY, Yang K, Ding XB, Liao SX. Li T, et al. Among authors: wang l. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Feb;30(1):40-4. doi: 10.3760/cma.j.issn.1003-9406.2013.01.010. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013. PMID: 23450477 Chinese.

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