Ki CS - Search Results

1

Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene.

Suh S, Kim HK, Park HD, Ki CS, Kim MY, Jin SM, Kim SW, Hur KY, Kim KW, Kim JH. Suh S, et al. Among authors: ki cs. Eur J Med Genet. 2012 Jan;55(1):71-4. doi: 10.1016/j.ejmg.2011.08.003. Epub 2011 Sep 16. Eur J Med Genet. 2012. PMID: 21958693

2

RET proto-oncogene mutations are restricted to codon 634 and 618 in Korean families with multiple endocrine neoplasia 2A.

Chung YJ, Kim HH, Kim HJ, Min YK, Lee MS, Lee MK, Kim KW, Ki CS, Kim JW, Chung JH. Chung YJ, et al. Among authors: ki cs. Thyroid. 2004 Oct;14(10):813-8. doi: 10.1089/thy.2004.14.813. Thyroid. 2004. PMID: 15588376

3

Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2.

Cho HJ, Kim BJ, Suh YL, An JY, Ki CS. Cho HJ, et al. Among authors: ki cs. J Hum Genet. 2006;51(10):905-908. doi: 10.1007/s10038-006-0033-1. Epub 2006 Sep 1. J Hum Genet. 2006. PMID: 16946995

4

Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III.

Oh SH, Park HD, Ki CS, Choe YH, Lee SY. Oh SH, et al. Among authors: ki cs. Clin Chem Lab Med. 2008;46(9):1245-9. doi: 10.1515/CCLM.2008.252. Clin Chem Lab Med. 2008. PMID: 18785866

5

A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease.

Park HD, Moon HK, Lee J, Lee M, Lee SY, Kim JW, Ki CS. Park HD, et al. Among authors: ki cs. Ann Clin Lab Sci. 2009 Spring;39(2):188-91. Ann Clin Lab Sci. 2009. PMID: 19429807

6

Clinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1.

Park HD, Lee DH, Choi TY, Lee YK, Kim JW, Ki CS, Lee YW. Park HD, et al. Among authors: ki cs. Clin Chem Lab Med. 2009;47(8):930-3. doi: 10.1515/CCLM.2009.223. Clin Chem Lab Med. 2009. PMID: 19569981

7

Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.

Park HD, Kim SR, Ki CS, Lee SY, Chang YS, Jin DK, Park WS. Park HD, et al. Among authors: ki cs. Ann Clin Lab Sci. 2009 Fall;39(4):399-404. Ann Clin Lab Sci. 2009. PMID: 19880769

8

Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea.

Kim MY, Tan AH, Ki CS, Lee JI, Jang HW, Shin HW, Kim SW, Min YK, Lee MS, Lee MK, Kim KW, Chung JH. Kim MY, et al. Among authors: ki cs. J Korean Med Sci. 2010 Feb;25(2):317-20. doi: 10.3346/jkms.2010.25.2.317. Epub 2010 Jan 19. J Korean Med Sci. 2010. PMID: 20119591 Free PMC article.

9

Association of ATP7B mutation detection rate with biochemical characteristics in Korean patients with Wilson disease.

Park HD, Park HK, Chung HS, Lee SY, Kim JW, Ki CS. Park HD, et al. Among authors: ki cs. Ann Clin Lab Sci. 2010 Winter;40(1):15-9. Ann Clin Lab Sci. 2010. PMID: 20124325

10

Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations.

Park HD, Ki CS, Kim JW, Kim WT, Kim JK. Park HD, et al. Among authors: ki cs. Ann Clin Lab Sci. 2010 Winter;40(1):20-5. Ann Clin Lab Sci. 2010. PMID: 20124326

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