Kim JW - Search Results

1

Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1.

Park HK, Kim BJ, Sung DH, Ki CS, Kim JW. Park HK, et al. Among authors: kim bj, kim jw. Clin Genet. 2006 Sep;70(3):253-6. doi: 10.1111/j.1399-0004.2006.00669.x. Clin Genet. 2006. PMID: 16922730 No abstract available.

2

Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.

Sohn YB, Ki CS, Kim CH, Ko AR, Yook YJ, Lee SJ, Kim SJ, Park SW, Yeau S, Kwon EK, Han SJ, Choi EW, Lee SY, Kim JW, Jin DK. Sohn YB, et al. Among authors: kim ch, kim sj, kim jw. Clin Genet. 2012 Feb;81(2):185-90. doi: 10.1111/j.1399-0004.2011.01641.x. Epub 2011 Feb 24. Clin Genet. 2012. PMID: 21291454

3

Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome.

Lee YW, Kim SC, Shin YL, Kim JW, Hong HS, Lee YK, Ki CS. Lee YW, et al. Among authors: kim sc, kim jw. Clin Genet. 2009 Mar;75(3):290-3. doi: 10.1111/j.1399-0004.2008.01127.x. Clin Genet. 2009. PMID: 19159393 No abstract available.

4

Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population.

Park HD, Ki CS, Lee SY, Kim JW. Park HD, et al. Among authors: kim jw. Clin Genet. 2009 Apr;75(4):405-7. doi: 10.1111/j.1399-0004.2008.01132.x. Clin Genet. 2009. PMID: 19419418 No abstract available.

5

Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation.

Yoo EH, Woo H, Ki CS, Lee HJ, Kim DK, Kang IS, Park P, Sung K, Lee CS, Chung TY, Moon JR, Han H, Lee ST, Kim JW. Yoo EH, et al. Among authors: kim dk, kim jw. Clin Genet. 2010 Feb;77(2):177-82. doi: 10.1111/j.1399-0004.2009.01287.x. Epub 2009 Oct 23. Clin Genet. 2010. PMID: 19863550

6

Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.

Ki CS, Han SH, Kim HJ, Lee SG, Kim EJ, Kim JW, Choe YH, Seo JK, Chang YJ, Park JY. Ki CS, et al. Among authors: kim hj, kim ej, kim jw. Clin Genet. 2004 Jun;65(6):487-9. doi: 10.1111/j.1399-0004.2004.00260.x. Clin Genet. 2004. PMID: 15151508

7

Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome.

Ki CS, Jin DK, Chang SH, Kim JE, Kim JW, Park BK, Choi JH, Park IS, Yoo HW. Ki CS, et al. Among authors: kim je, kim jw. Clin Genet. 2005 Dec;68(6):561-3. doi: 10.1111/j.1399-0004.2005.00535.x. Clin Genet. 2005. PMID: 16283890 No abstract available.

8

A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum.

Yun JW, Jo KI, Woo HI, Lee SY, Ki CS, Kim JW, Song J, Lee DH, Lee YW, Park HD. Yun JW, et al. Among authors: kim jw. Clin Genet. 2015 Feb;87(2):196-8. doi: 10.1111/cge.12350. Epub 2014 Feb 21. Clin Genet. 2015. PMID: 24635911 No abstract available.

9

Frequency of FMR1 premutation carriers and rate of expansion to full mutation in a retrospective diagnostic FMR1 Korean sample.

Jang JH, Lee K, Cho EH, Lee EH, Kim JW, Ki CS. Jang JH, et al. Among authors: kim jw. Clin Genet. 2014 May;85(5):441-5. doi: 10.1111/cge.12195. Epub 2013 Jun 13. Clin Genet. 2014. PMID: 23683082

10

Frequency of DMPK mutation carriers in Korean women of childbearing age.

Jang JH, Lee JW, Cho EH, Lee EH, Kim JW, Ki CS. Jang JH, et al. Among authors: kim jw. Clin Genet. 2014 Oct;86(4):398-9. doi: 10.1111/cge.12310. Epub 2013 Nov 26. Clin Genet. 2014. PMID: 24274137 No abstract available.

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