Ki CS - Search Results

1

[A korean family with Wilson disease occurred in two consecutive generations.].

Choi JS, Lee JH, Ki CS. Choi JS, et al. Among authors: ki cs. Korean J Lab Med. 2006 Dec;26(6):449-53. doi: 10.3343/kjlm.2006.26.6.449. Korean J Lab Med. 2006. PMID: 18156766 Korean.

2

Two novel mutations in the C7 gene in a Korean patient with complement C7 deficiency.

Ki CS, Kim JW, Kim HJ, Choi SM, Ha GY, Kang HJ, Kim WD. Ki CS, et al. J Korean Med Sci. 2005 Apr;20(2):220-4. doi: 10.3346/jkms.2005.20.2.220. J Korean Med Sci. 2005. PMID: 15831990 Free PMC article.

3

A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.

Han SH, Ki CS, Lee JE, Hong YJ, Son BK, Lee KH, Choe YH, Lee SY, Kim JW. Han SH, et al. Among authors: ki cs. J Korean Med Sci. 2005 Jun;20(3):499-501. doi: 10.3346/jkms.2005.20.3.499. J Korean Med Sci. 2005. PMID: 15953877 Free PMC article.

4

Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene.

Koh WJ, Ki CS, Kim JW, Kim JH, Lim SY. Koh WJ, et al. Among authors: ki cs. J Korean Med Sci. 2006 Jun;21(3):563-6. doi: 10.3346/jkms.2006.21.3.563. J Korean Med Sci. 2006. PMID: 16778407 Free PMC article.

5

Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.

Cho HJ, Sung DH, Kim EJ, Yoon CH, Ki CS, Kim JW. Cho HJ, et al. Among authors: ki cs. J Korean Med Sci. 2006 Aug;21(4):724-7. doi: 10.3346/jkms.2006.21.4.724. J Korean Med Sci. 2006. PMID: 16891820 Free PMC article.

6

X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family.

Cho HJ, Shin MY, Ahn KM, Lee SI, Kim HJ, Ki CS, Kim JW. Cho HJ, et al. Among authors: ki cs. J Korean Med Sci. 2006 Oct;21(5):790-3. doi: 10.3346/jkms.2006.21.5.790. J Korean Med Sci. 2006. PMID: 17043407 Free PMC article.

7

Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening.

Yoo EH, Cho HJ, Ki CS, Lee SY. Yoo EH, et al. Among authors: ki cs. Clin Chem Lab Med. 2007;45(11):1495-7. doi: 10.1515/CCLM.2007.317. Clin Chem Lab Med. 2007. PMID: 17924841

8

[Comparison of two new plastic tubes (Sekisui INSEPACK and Green Cross Green Vac-Tube) with BD Vacutainer tubes for 49 analytes].

Oh SH, Ki CS. Oh SH, et al. Among authors: ki cs. Korean J Lab Med. 2007 Feb;27(1):69-75. doi: 10.3343/kjlm.2007.27.1.69. Korean J Lab Med. 2007. PMID: 18094554 Korean.

9

Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease.

Park HK, Na DL, Lee JH, Kim JW, Ki CS. Park HK, et al. Among authors: ki cs. J Korean Med Sci. 2008 Apr;23(2):213-7. doi: 10.3346/jkms.2008.23.2.213. J Korean Med Sci. 2008. PMID: 18437002 Free PMC article.

10

[Standardized sweat chloride analysis for the diagnosis of cystic fibrosis in Korea].

Kim SJ, Lee M, Cha SI, Park HY, Ahn KM, Ki CS, Kim JH. Kim SJ, et al. Among authors: ki cs. Korean J Lab Med. 2008 Aug;28(4):274-81. doi: 10.3343/kjlm.2008.28.4.274. Korean J Lab Med. 2008. PMID: 18728376 Free article. Korean.

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