Ki CS - Search Results

1

Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

Yang JH, Ki CS, Han H, Song BG, Jang SY, Chung TY, Sung K, Lee HJ, Kim DK. Yang JH, et al. Among authors: ki cs. J Hum Genet. 2012 Jan;57(1):52-6. doi: 10.1038/jhg.2011.130. Epub 2011 Nov 24. J Hum Genet. 2012. PMID: 22113417

2

Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.

Ki CS, Hong JS, Jeong GY, Ahn KJ, Choi KM, Kim DK, Kim JW. Ki CS, et al. J Hum Genet. 2002;47(5):225-8. doi: 10.1007/s100380200029. J Hum Genet. 2002. PMID: 12032588

3

A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia.

Ki CS, Lee WY, Han DH, Sung DH, Lee KB, Lee KA, Cho SS, Cho S, Hwang H, Sohn KM, Choi YJ, Kim JW. Ki CS, et al. J Hum Genet. 2002;47(9):473-7. doi: 10.1007/s100380200068. J Hum Genet. 2002. PMID: 12202986

4

Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B.

Hong JS, Ki CS, Kim JW, Suh YL, Kim JS, Baek KK, Kim BJ, Ahn KJ, Kim DK. Hong JS, et al. Among authors: ki cs. J Korean Med Sci. 2005 Apr;20(2):283-90. doi: 10.3346/jkms.2005.20.2.283. J Korean Med Sci. 2005. PMID: 15832002 Free PMC article.

5

Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.

Paik KH, Song SM, Ki CS, Yu HW, Kim JS, Min KH, Chang SH, Yoo EJ, Lee IJ, Kwan EK, Han SJ, Jin DK. Paik KH, et al. Among authors: ki cs. Hum Mutat. 2005 Oct;26(4):308-14. doi: 10.1002/humu.20205. Hum Mutat. 2005. PMID: 16116615

6

Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.

Kim BJ, Ki CS, Kim JW, Sung DH, Choi YC, Kim SH. Kim BJ, et al. Among authors: ki cs. J Hum Genet. 2006;51(2):137-140. doi: 10.1007/s10038-005-0338-5. Epub 2005 Dec 22. J Hum Genet. 2006. PMID: 16372135

7

A novel mutation W252X in the WAS gene in a Korean patient with Wiskott-Aldrich syndrome.

Kim HJ, Yoo EH, Ki CS, Yoo GH, Koo HH, Kim JW, Kim SH. Kim HJ, et al. Among authors: ki cs. Int J Hematol. 2006 Jun;83(5):426-8. doi: 10.1532/IJH97.A30513. Int J Hematol. 2006. PMID: 16787874

8

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.

9

Clinical features and gene analysis in Korean patients with early-onset Parkinson disease.

Chung EJ, Ki CS, Lee WY, Kim IS, Kim JY. Chung EJ, et al. Among authors: ki cs. Arch Neurol. 2006 Aug;63(8):1170-4. doi: 10.1001/archneur.63.8.1170. Arch Neurol. 2006. PMID: 16908747 Clinical Trial.

10

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

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