Ki CS - Search Results

1

Novel c.300_301delinsT mutation in PITX2 in a Korean family with Axenfeld-Rieger syndrome.

Yun JW, Cho HK, Oh SY, Ki CS, Kee C. Yun JW, et al. Among authors: ki cs. Ann Lab Med. 2013 Sep;33(5):360-3. doi: 10.3343/alm.2013.33.5.360. Epub 2013 Aug 8. Ann Lab Med. 2013. PMID: 24003428 Free PMC article.

2

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.

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

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.

5

Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy.

Bae JS, Ki CS, Kim JW, Kim BJ. Bae JS, et al. Among authors: ki cs. J Clin Neurosci. 2007 Jan;14(1):89-92. doi: 10.1016/j.jocn.2005.12.036. J Clin Neurosci. 2007. PMID: 17138075

6

Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy.

Cho HJ, Sung DH, Ki CS. Cho HJ, et al. Among authors: ki cs. Muscle Nerve. 2007 Sep;36(3):384-6. doi: 10.1002/mus.20792. Muscle Nerve. 2007. PMID: 17486577

7

Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome.

Kim IS, Oh SY, Choi SJ, Kim JH, Park KH, Park HK, Kim JW, Ki CS. Kim IS, et al. Among authors: ki cs. J Hum Genet. 2007;52(8):698-701. doi: 10.1007/s10038-007-0173-y. Epub 2007 Jul 6. J Hum Genet. 2007. PMID: 17612791

8

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

9

Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome.

Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang, Ki CS, Kim JW. Jong Hee Chae, et al. Among authors: ki cs, ki joong kim. J Child Neurol. 2007 Nov;22(11):1297-300. doi: 10.1177/0883073807307099. J Child Neurol. 2007. PMID: 18006960

10

[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.

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