Liu N - Search Results

1

A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract.

Kong XD, Liu N, Shi HR, Dong JM, Zhao ZH, Liu J, Li-Ling J, Yang YX. Kong XD, et al. Among authors: liu j, liu n. Genet Mol Res. 2015 Jan 23;14(1):426-32. doi: 10.4238/2015.January.23.16. Genet Mol Res. 2015. PMID: 25729975 Free article.

2

[Mutation analysis and prenatal diagnosis of a Chinese family with X-linked severe combined immunodeficiency].

Wu QH, Shi HR, Liu N, Jiang M, Lu N, Zhao ZH, Kong XD. Wu QH, et al. Among authors: liu n. Zhonghua Er Ke Za Zhi. 2012 Nov;50(11):851-4. Zhonghua Er Ke Za Zhi. 2012. PMID: 23302618 Chinese.

3

[Mutation analysis of CRYBB1 gene and prenatal diagnosis for a Chinese kindred featuring autosomal dominant congenital nuclear cataract].

Wu Q, Shi H, Liu N, Lu N, Jiang M, Zhao Z, Kong X. Wu Q, et al. Among authors: liu n. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Jun;30(3):266-9. doi: 10.3760/cma.j.issn.1003-9406.2013.03.003. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013. PMID: 23744311 Chinese.

4

[Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia].

Liu N, Shi HR, Wu QH, Jiang M, Kong XD. Liu N, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Aug;30(4):407-9. doi: 10.3760/cma.j.issn.1003-9406.2013.04.006. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013. PMID: 23926005 Chinese.

5

[Mutation analysis and prenatal diagnosis of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma].

Liu N, Shi H, Kong X, Wu Q, Jiang M. Liu N, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Feb;31(1):48-51. doi: 10.3760/cma.j.issn.1003-9406.2014.01.011. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014. PMID: 24510562 Chinese.

6

A novel 1-bp deletion mutation of the EDA gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia.

Kong XD, Liu N, Shi HR, Yang YX. Kong XD, et al. Among authors: liu n. J Dermatol. 2014 Jul;41(7):659-61. doi: 10.1111/1346-8138.12431. J Dermatol. 2014. PMID: 24985548 No abstract available.

7

Tyrosinase gene mutations in the Chinese Han population with OCA1.

Liu N, Kong XD, Shi HR, Wu QH, Jiang M. Liu N, et al. Genet Res (Camb). 2014 Nov 12;96:e14. doi: 10.1017/S0016672314000160. Genet Res (Camb). 2014. PMID: 25577957 Free PMC article.

8

Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2Rγ gene novel mutation.

Bai QL, Liu N, Kong XD, Xu XJ, Zhao ZH. Bai QL, et al. Among authors: liu n. Genet Mol Res. 2015 Jun 11;14(2):6164-72. doi: 10.4238/2015.June.9.2. Genet Mol Res. 2015. PMID: 26125817 Free article.

9

Prenatal diagnosis of Chinese families with phenylketonuria.

Liu N, Kong XD, Zhao DH, Wu QH, Li XL, Guo HF, Cui LX, Jiang M, Shi HR. Liu N, et al. Genet Mol Res. 2015 Nov 19;14(4):14615-28. doi: 10.4238/2015.November.18.25. Genet Mol Res. 2015. PMID: 26600521 Free article.

10

Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria.

Kong XD, Shi HR, Liu N, Wu QH, Xu XJ, Zhao ZH, Lu N, Li-Ling J, Luo D. Kong XD, et al. Among authors: liu n. Genet Mol Res. 2014 Oct 8;13(4):8234-40. doi: 10.4238/2014.October.8.5. Genet Mol Res. 2014. PMID: 25299208 Free article.

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