Cheon CK - Search Results

1

Clinical and molecular spectra of BRAF-associated RASopathy.

Lee Y, Choi Y, Seo GH, Kim GH, Choi IH, Keum C, Ko JM, Cheon CK, Jeon J, Choi JH, Yoo HW, Lee BH. Lee Y, et al. Among authors: cheon ck. J Hum Genet. 2021 Apr;66(4):389-399. doi: 10.1038/s10038-020-00852-3. Epub 2020 Oct 10. J Hum Genet. 2021. PMID: 33040082

2

A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.

Ko JM, Cheon CK, Kim GH, Yoo HW. Ko JM, et al. Among authors: cheon ck. Eur J Pediatr. 2009 Jul;168(7):877-80. doi: 10.1007/s00431-008-0849-0. Epub 2008 Oct 14. Eur J Pediatr. 2009. PMID: 18853185

3

The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome.

Ko JM, Kim JM, Cheon CK, Kim DH, Lee DY, Cheong WY, Kim EY, Park MJ, Yoo HW. Ko JM, et al. Among authors: cheon ck. Clin Endocrinol (Oxf). 2010 Feb;72(2):196-202. doi: 10.1111/j.1365-2265.2009.03681.x. Epub 2009 Aug 4. Clin Endocrinol (Oxf). 2010. PMID: 19681916

4

Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency.

Ko JM, Cheon CK, Kim GH, Kim SH, Kim KS, Yoo HW. Ko JM, et al. Among authors: cheon ck. Horm Res Paediatr. 2010;73(1):41-8. doi: 10.1159/000271915. Epub 2010 Jan 15. Horm Res Paediatr. 2010. PMID: 20190539

5

Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.

Cheon CK, Lee BH, Ko JM, Kim HJ, Yoo HW. Cheon CK, et al. Pediatr Neurol. 2010 May;42(5):369-71. doi: 10.1016/j.pediatrneurol.2010.01.009. Pediatr Neurol. 2010. PMID: 20399395 Review.

6

Low prevalence of classical galactosemia in Korean population.

Lee BH, Cheon CK, Kim JM, Kang M, Kim JH, Yang SH, Kim GH, Choi JH, Yoo HW. Lee BH, et al. Among authors: cheon ck. J Hum Genet. 2011 Jan;56(1):94-6. doi: 10.1038/jhg.2010.152. Epub 2010 Dec 9. J Hum Genet. 2011. PMID: 21150919

7

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.

Cheon CK, Sohn YB, Ko JM, Lee YJ, Song JS, Moon JW, Yang BK, Ha IS, Bae EJ, Jin HS, Jeong SY. Cheon CK, et al. J Hum Genet. 2014 Jun;59(6):321-5. doi: 10.1038/jhg.2014.25. Epub 2014 Apr 17. J Hum Genet. 2014. PMID: 24739679

8

Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.

Kim JH, Lee BH, Kim YM, Choi JH, Kim GH, Cheon CK, Yoo HW. Kim JH, et al. Among authors: cheon ck. Metab Brain Dis. 2015 Feb;30(1):75-81. doi: 10.1007/s11011-014-9569-5. Epub 2014 Jun 13. Metab Brain Dis. 2015. PMID: 24919650

9

A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature.

Cheon CK, Lee HS, Kim SY, Kwak MJ, Kim GH, Yoo HW. Cheon CK, et al. Ann Pediatr Endocrinol Metab. 2014 Mar;19(1):36-41. doi: 10.6065/apem.2014.19.1.36. Epub 2014 Mar 31. Ann Pediatr Endocrinol Metab. 2014. PMID: 24926462 Free PMC article.

10

OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.

Lee JH, Kim GH, Yoo HW, Cheon CK. Lee JH, et al. Among authors: cheon ck. Pediatr Neurol. 2014 Sep;51(3):354-359.e1. doi: 10.1016/j.pediatrneurol.2014.03.029. Epub 2014 May 29. Pediatr Neurol. 2014. PMID: 25011434

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