Kim CH - Search Results

1

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.

Kim SJ, Bieganski T, Sohn YB, Kozlowski K, Semënov M, Okamoto N, Kim CH, Ko AR, Ahn GH, Choi YL, Park SW, Ki CS, Kim OH, Nishimura G, Unger S, Superti-Furga A, Jin DK. Kim SJ, et al. Among authors: kim ch, kim oh. Hum Genet. 2011 May;129(5):497-502. doi: 10.1007/s00439-011-0947-3. Epub 2011 Jan 9. Hum Genet. 2011. PMID: 21221996

2

High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II.

Ahn SY, Chang YS, Sung DK, Ko AR, Kim CH, Yoo DK, Lim KH, Sohn YB, Jin DK, Park WS. Ahn SY, et al. Among authors: kim ch. J Hum Genet. 2013 Nov;58(11):728-33. doi: 10.1038/jhg.2013.92. Epub 2013 Sep 5. J Hum Genet. 2013. PMID: 24005894

3

A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.

Sohn YB, Kim SJ, Park SW, Park HD, Ki CS, Kim CH, Huh SW, Yeau S, Paik KH, Jin DK. Sohn YB, et al. Among authors: kim ch, kim sj. Am J Med Genet A. 2010 Dec;152A(12):3129-32. doi: 10.1002/ajmg.a.33589. Am J Med Genet A. 2010. PMID: 21108396

4

Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency.

Kim SH, Park HD, Sohn YB, Park SW, Cho SY, Ji S, Kim SJ, Choi EW, Kim CH, Ko AR, Yeau S, Paik KH, Jin DK. Kim SH, et al. Among authors: kim ch, kim sj. Ann Clin Lab Sci. 2011 Fall;41(1):84-8. Ann Clin Lab Sci. 2011. PMID: 21325261

5

Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence.

Cho SY, Chang YP, Park JY, Park HD, Sohn YB, Park SW, Kim SH, Ji S, Kim SJ, Choi EW, Kim CH, Ko AR, Paik KH, Jin DK. Cho SY, et al. Among authors: kim sh, kim ch, kim sj. Ann Clin Lab Sci. 2011 Spring;41(2):182-7. Ann Clin Lab Sci. 2011. PMID: 21844578

6

A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients.

Lee OJ, Kim SJ, Sohn YB, Park HD, Lee SY, Kim CH, Ko AR, Yook YJ, Lee SJ, Park SW, Kim SH, Cho SY, Kwon EK, Han SJ, Jin DK. Lee OJ, et al. Among authors: kim ch, kim sh, kim sj. Korean J Pediatr. 2012 Mar;55(3):88-92. doi: 10.3345/kjp.2012.55.3.88. Epub 2012 Mar 16. Korean J Pediatr. 2012. PMID: 22474463 Free PMC article.

7

Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II.

Hong SH, Chu H, Kim KR, Ko MH, Kwon SY, Moon IJ, Chung WH, Cho YS, Kim CH, Suh MW, Choi EW, Sohn YB, Park SW, Kim SH, Cho SY, Ko AR, Jin DK. Hong SH, et al. Among authors: kim ch, kim sh, kim kr. Am J Med Genet A. 2012 Sep;158A(9):2131-8. doi: 10.1002/ajmg.a.35498. Epub 2012 Jul 27. Am J Med Genet A. 2012. PMID: 22847837

8

Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations.

Kim CH, Hwang HZ, Song SM, Paik KH, Kwon EK, Moon KB, Yoon JH, Han CK, Jin DK. Kim CH, et al. Hum Mutat. 2003 Apr;21(4):449-50. doi: 10.1002/humu.9128. Hum Mutat. 2003. PMID: 12655569

9

Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy.

Jung SC, Park ES, Choi EN, Kim CH, Kim SJ, Jin DK. Jung SC, et al. Among authors: kim ch, kim sj. Mol Cells. 2010 Jul;30(1):13-8. doi: 10.1007/s10059-010-0083-2. Epub 2010 Jul 14. Mol Cells. 2010. PMID: 20652491 Free article.

10

LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls.

Park SW, Lee ST, Sohn YB, Cho SY, Kim SH, Kim SJ, Kim CH, Ko AR, Paik KH, Kim JW, Jin DK. Park SW, et al. Among authors: kim sh, kim ch, kim sj, kim jw. Korean J Pediatr. 2012 Oct;55(10):388-92. doi: 10.3345/kjp.2012.55.10.388. Epub 2012 Oct 29. Korean J Pediatr. 2012. PMID: 23133486 Free PMC article.

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