Kong XD - Search Results

1

[Analysis of non-invasive prenatal screening detection in fetal chromosome aneuploidy].

Cai AJ, Zhu CF, Xue SW, Cui SY, Qu SZ, Liu N, Kong XD. Cai AJ, et al. Among authors: kong xd. Zhonghua Fu Chan Ke Za Zhi. 2017 Nov 25;52(11):765-769. doi: 10.3760/cma.j.issn.0529-567X.2017.11.009. Zhonghua Fu Chan Ke Za Zhi. 2017. PMID: 29179272 Chinese.

2

[Early prenatal genetic diagnosis of oculocutaneous albinism type I in seven families].

Wu Q, Shi HR, Liu N, Lu N, Jiang M, Zhao ZH, Kong XD. Wu Q, et al. Among authors: kong xd. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):377-81. doi: 10.3760/cma.j.issn.1003-9406.2012.04.001. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012. PMID: 22875490 Chinese.

3

[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: kong xd. Zhonghua Er Ke Za Zhi. 2012 Nov;50(11):851-4. Zhonghua Er Ke Za Zhi. 2012. PMID: 23302618 Chinese.

4

[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. 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.

5

[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. Among authors: kong xd. 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.

6

[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.

7

Rapid diagnosis of aneuploidy using segmental duplication quantitative fluorescent PCR.

Kong X, Li L, Sun L, Fu K, Long J, Weng X, Ye X, Liu X, Wang B, Yan S, Ye H, Fan Z. Kong X, et al. PLoS One. 2014 Mar 13;9(3):e88932. doi: 10.1371/journal.pone.0088932. eCollection 2014. PLoS One. 2014. PMID: 24625828 Free PMC article.

8

[Mutation analyses and prenatal diagnosis in two families of X linked severe combined immunodeficiency caused by IL2RG gene novel mutation].

Kong X, Liu N, Xu X, Wu Q, Zhao Z, Bai Q, Meng J. Kong X, et al. Zhonghua Yi Xue Za Zhi. 2014 Apr 29;94(16):1227-31. Zhonghua Yi Xue Za Zhi. 2014. PMID: 24924886 Chinese.

9

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. J Dermatol. 2014 Jul;41(7):659-61. doi: 10.1111/1346-8138.12431. J Dermatol. 2014. PMID: 24985548 No abstract available.

10

Bioinformatics analysis of biomarkers and transcriptional factor motifs in Down syndrome.

Kong XD, Liu N, Xu XJ. Kong XD, et al. Braz J Med Biol Res. 2014 Oct;47(10):834-41. doi: 10.1590/1414-431x20143792. Epub 2014 Aug 8. Braz J Med Biol Res. 2014. PMID: 25118625 Free PMC article.

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