Koo SK - Search Results

1

The molecular basis of phenylketonuria in Koreans.

Lee DH, Koo SK, Lee KS, Yeon YJ, Oh HJ, Kim SW, Lee SJ, Kim SS, Lee JE, Jo I, Jung SC. Lee DH, et al. Among authors: koo sk. J Hum Genet. 2004;49(11):617-621. doi: 10.1007/s10038-004-0197-5. Epub 2004 Oct 16. J Hum Genet. 2004. PMID: 15503242

2

Human gene mutations. Gene symbol: AR. Disease: Androgen insensitivity syndrome.

Jung SC, Lee KS, Koo SK. Jung SC, et al. Among authors: koo sk. Hum Genet. 2004 Jan;114(2):222. Hum Genet. 2004. PMID: 15046097 No abstract available.

3

Reversal of gene expression profile in the phenylketonuria mouse model after adeno-associated virus vector-mediated gene therapy.

Oh HJ, Lee H, Park JW, Rhee H, Koo SK, Kang S, Jo I, Jung SC. Oh HJ, et al. Among authors: koo sk. Mol Genet Metab. 2005 Dec;86 Suppl 1:S124-32. doi: 10.1016/j.ymgme.2005.06.015. Epub 2005 Sep 16. Mol Genet Metab. 2005. PMID: 16150627

4

Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.

Lee SJ, Lee DH, Yoo HW, Koo SK, Park ES, Park JW, Lim HG, Jung SC. Lee SJ, et al. Among authors: koo sk. J Hum Genet. 2005;50(12):648-54. doi: 10.1007/s10038-005-0312-2. Epub 2005 Oct 5. J Hum Genet. 2005. PMID: 16205833

5

Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene.

Kim SW, Jung J, Oh HJ, Kim J, Lee KS, Lee DH, Park C, Kimm K, Koo SK, Jung SC. Kim SW, et al. Among authors: koo sk. Clin Chim Acta. 2006 Mar;365(1-2):279-87. doi: 10.1016/j.cca.2005.09.019. Epub 2005 Oct 25. Clin Chim Acta. 2006. PMID: 16253218

6

Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.

Song HR, Lee KS, Li QW, Koo SK, Jung SC. Song HR, et al. Among authors: koo sk. J Hum Genet. 2003;48(5):222-225. doi: 10.1007/s10038-003-0013-7. Epub 2003 Apr 24. J Hum Genet. 2003. PMID: 12768438

7

Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.

Lee KS, Song HR, Cho TJ, Kim HJ, Lee TM, Jin HS, Park HY, Kang S, Jung SC, Koo SK. Lee KS, et al. Among authors: koo sk. Hum Mutat. 2006 Jun;27(6):599. doi: 10.1002/humu.9423. Hum Mutat. 2006. PMID: 16705691

8

Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.

Lee TM, Kim SW, Lee KS, Jin HS, Koo SK, Jo I, Kang S, Jung SC. Lee TM, et al. Among authors: koo sk. J Korean Med Sci. 2004 Dec;19(6):870-3. doi: 10.3346/jkms.2004.19.6.870. J Korean Med Sci. 2004. PMID: 15608400 Free PMC article. Clinical Trial.

9

Mesomelic dwarfism in pseudoachondroplasia.

Song HR, Li QW, Oh CW, Lee KS, Koo SK, Jung SC. Song HR, et al. Among authors: koo sk. J Pediatr Orthop B. 2004 Sep;13(5):340-4. doi: 10.1097/01202412-200409000-00012. J Pediatr Orthop B. 2004. PMID: 15552564

10

Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.

Choi BO, Koo SK, Park MH, Rhee H, Yang SJ, Choi KG, Jung SC, Kim HS, Hyun YS, Nakhro K, Lee HJ, Woo HM, Chung KW. Choi BO, et al. Among authors: koo sk. Hum Mutat. 2012 Nov;33(11):1610-5. doi: 10.1002/humu.22143. Epub 2012 Jul 5. Hum Mutat. 2012. PMID: 22730194

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