Choy KW - Search Results

1

Validation of a high-throughput and robust technique: BACs-on-beads assay (KaryoLite BoBs) for pre-implantation aneuploidy screening.

Kong GWS, Ma Y, Ou J, Kwok YKY, Wang W, Yeung QSY, Wong CKM, Li Q, Xu W, Lu W, Li H, Li TC, Choy KW. Kong GWS, et al. Among authors: choy kw. Taiwan J Obstet Gynecol. 2017 Aug;56(4):514-520. doi: 10.1016/j.tjog.2017.01.011. Taiwan J Obstet Gynecol. 2017. PMID: 28805610 Free article.

2

Second-trimester detection of Mowat-Wilson syndrome using comparative genomic hybridization microarray testing.

Choy KW, To KF, Chan AWH, Lau TK, Leung TY. Choy KW, et al. Obstet Gynecol. 2010 Feb;115(2 Pt 2):462-465. doi: 10.1097/AOG.0b013e3181c9c8f8. Obstet Gynecol. 2010. PMID: 20093881

3

A novel 15bp micro-duplication in SF-1 gene showing diverse phenotypic spectrum in a Chinese family.

Li H, Choy KW, Lei YP, Wang W, Wang HY, Chen Y. Li H, et al. Among authors: choy kw. J Matern Fetal Neonatal Med. 2011 Jan;24(1):132-6. doi: 10.3109/14767051003678184. Epub 2010 Nov 25. J Matern Fetal Neonatal Med. 2011. PMID: 20350242 Free article.

4

A novel mutation of GATA4 in a familial atrial septal defect.

Chen Y, Mao J, Sun Y, Zhang Q, Cheng HB, Yan WH, Choy KW, Li H. Chen Y, et al. Among authors: choy kw. Clin Chim Acta. 2010 Nov 11;411(21-22):1741-5. doi: 10.1016/j.cca.2010.07.021. Epub 2010 Jul 24. Clin Chim Acta. 2010. PMID: 20659440

5

[22q11 microdeletion test in patients with congenital heart defects by quantitative fluorescent PCR].

Chen Y, Mao J, Kwok KY, Kan HJ, Cheng HB, Li HB, Liu MJ, Sun Y, Yan WH, Li H, Choy KW. Chen Y, et al. Among authors: choy kw. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Oct;27(5):571-5. doi: 10.3760/cma.j.issn.1003-9406.2010.05.021. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010. PMID: 20931540 Chinese.

6

Prenatal detection of aneuploidy and imbalanced chromosomal arrangements by massively parallel sequencing.

Dan S, Chen F, Choy KW, Jiang F, Lin J, Xuan Z, Wang W, Chen S, Li X, Jiang H, Leung TY, Lau TK, Su Y, Zhang W, Zhang X. Dan S, et al. Among authors: choy kw. PLoS One. 2012;7(2):e27835. doi: 10.1371/journal.pone.0027835. Epub 2012 Feb 28. PLoS One. 2012. PMID: 22389664 Free PMC article.

7

The detection of mosaicism by prenatal BoBs™.

Cheng YK, Wong C, Wong HK, Leung KO, Kwok YK, Suen A, Wang CC, Leung TY, Choy KW. Cheng YK, et al. Among authors: choy kw. Prenat Diagn. 2013 Jan;33(1):42-9. doi: 10.1002/pd.4006. Epub 2012 Nov 20. Prenat Diagn. 2013. PMID: 23168997

8

Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service.

Lau TK, Jiang FM, Stevenson RJ, Lo TK, Chan LW, Chan MK, Lo PS, Wang W, Zhang HY, Chen F, Choy KW. Lau TK, et al. Among authors: choy kw. Prenat Diagn. 2013 Jun;33(6):602-8. doi: 10.1002/pd.4076. Epub 2013 Apr 2. Prenat Diagn. 2013. PMID: 23553438

9

A patient with five chromosomal rearrangements and a 2q31.1 microdeletion.

Wang T, Mao J, Liu MJ, Choy KW, Li HB, Cram DS, Li H, Chen Y. Wang T, et al. Among authors: choy kw. Clin Chim Acta. 2014 Mar 20;430:129-33. doi: 10.1016/j.cca.2014.01.002. Epub 2014 Jan 9. Clin Chim Acta. 2014. PMID: 24412318

10

PSCC: sensitive and reliable population-scale copy number variation detection method based on low coverage sequencing.

Li X, Chen S, Xie W, Vogel I, Choy KW, Chen F, Christensen R, Zhang C, Ge H, Jiang H, Yu C, Huang F, Wang W, Jiang H, Zhang X. Li X, et al. Among authors: choy kw. PLoS One. 2014 Jan 21;9(1):e85096. doi: 10.1371/journal.pone.0085096. eCollection 2014. PLoS One. 2014. PMID: 24465483 Free PMC article.

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