Ki CS - Search Results

1

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

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

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.

5

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.

6

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.

7

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.

8

Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia.

Park SY, Ki CS, Kim HJ, Kim JW, Sung DH, Kim BJ, Lee WY. Park SY, et al. Among authors: ki cs. Arch Neurol. 2005 Jul;62(7):1118-21. doi: 10.1001/archneur.62.7.1118. Arch Neurol. 2005. PMID: 16009769

9

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

10

GSTM1, GSTT1 and GSTP1 polymorphisms in the Korean population.

Cho HJ, Lee SY, Ki CS, Kim JW. Cho HJ, et al. Among authors: ki cs. J Korean Med Sci. 2005 Dec;20(6):1089-92. doi: 10.3346/jkms.2005.20.6.1089. J Korean Med Sci. 2005. PMID: 16361831 Free PMC article.

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