Ki CS - Search Results

1

Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy.

Lee JH, Ki CS, Kim DS, Cho JW, Park KP, Kim S. Lee JH, et al. Among authors: ki cs. J Korean Med Sci. 2011 Sep;26(9):1244-6. doi: 10.3346/jkms.2011.26.9.1244. Epub 2011 Sep 1. J Korean Med Sci. 2011. PMID: 21935284 Free PMC article.

2

A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient.

Moon SY, Kim HY, Seok JI, Kwon JC, Ki CS, Kim JW, Suh YL, Na DL. Moon SY, et al. Among authors: ki cs. J Korean Med Sci. 2003 Feb;18(1):141-4. doi: 10.3346/jkms.2003.18.1.141. J Korean Med Sci. 2003. PMID: 12589106 Free PMC article.

3

A novel B(var) allele (547 G>A) demonstrates differential expression depending on the co-inherited ABO allele.

Cho D, Kim SH, Ki CS, Choi KL, Cho YG, Song JW, Shin JH, Suh SP, Yazer MH, Ryang DW. Cho D, et al. Among authors: ki cs. Vox Sang. 2004 Oct;87(3):187-9. doi: 10.1111/j.1423-0410.2004.00575.x. Vox Sang. 2004. PMID: 15569071

4

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.

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

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.

8

A novel mutation in the GATA1 gene associated with acute megakaryoblastic leukemia in a Korean Down syndrome patient.

Kim IS, Park ES, Lim JY, Ki CS, Chi HS. Kim IS, et al. Among authors: ki cs. J Korean Med Sci. 2008 Dec;23(6):1105-8. doi: 10.3346/jkms.2008.23.6.1105. Epub 2008 Dec 24. J Korean Med Sci. 2008. PMID: 19119459 Free PMC article.

9

A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis.

Ko JS, Choi BS, Seo JK, Shin JY, Chae JH, Kang GH, Lee R, Ki CS, Kim JW. Ko JS, et al. Among authors: ki cs. J Korean Med Sci. 2010 Jan;25(1):159-62. doi: 10.3346/jkms.2010.25.1.159. Epub 2009 Dec 26. J Korean Med Sci. 2010. PMID: 20052364 Free PMC article.

10

Novel CFTR mutations in a Korean infant with cystic fibrosis and pancreatic insufficiency.

Choe YJ, Ko JS, Seo JK, Han JJ, Shim JO, Koh YY, Lee R, Ki CS, Kim JW, Kim JH. Choe YJ, et al. Among authors: ki cs. J Korean Med Sci. 2010 Jan;25(1):163-5. doi: 10.3346/jkms.2010.25.1.163. Epub 2009 Dec 29. J Korean Med Sci. 2010. PMID: 20052365 Free PMC article.

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