Lee J - Search Results

1

Comparative proteomic analysis in children with idiopathic short stature (ISS) before and after short-term recombinant human growth hormone (rhGH) therapy.

Heo SH, Choi JH, Kim YM, Jung CW, Lee J, Jin HY, Kim GH, Lee BH, Shin CH, Yoo HW. Heo SH, et al. Among authors: lee bh, lee j. Proteomics. 2013 Apr;13(7):1211-9. doi: 10.1002/pmic.201200131. Epub 2013 Mar 4. Proteomics. 2013. PMID: 23436750 Clinical Trial.

2

[Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization].

Seo EJ, Jun KR, Yoo HW, Yoo HK, Lee JO. Seo EJ, et al. Korean J Lab Med. 2010 Feb;30(1):70-5. doi: 10.3343/kjlm.2010.30.1.70. Korean J Lab Med. 2010. PMID: 20197726 Korean.

3

Molecular cytogenetic and clinical characterization of a patient with a 5.6-Mb deletion in 7p15 including HOXA cluster.

Jun KR, Seo EJ, Lee JO, Yoo HW, Park IS, Yoon HK. Jun KR, et al. Am J Med Genet A. 2011 Mar;155A(3):642-7. doi: 10.1002/ajmg.a.33860. Epub 2011 Feb 22. Am J Med Genet A. 2011. PMID: 21344639

4

Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations.

Jung CW, Lee BH, Kim JH, Kim GH, Lee J, Choi JH, Yoo HW. Jung CW, et al. Among authors: lee bh, lee j. J Hum Genet. 2012 Jan;57(1):62-4. doi: 10.1038/jhg.2011.116. Epub 2011 Oct 27. J Hum Genet. 2012. PMID: 22030835

5

Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups.

Lee JY, Lee BH, Kim GH, Jung CW, Lee J, Choi JH, Yoo HW. Lee JY, et al. Among authors: lee bh, lee j. Korean J Pediatr. 2012 Feb;55(2):48-53. doi: 10.3345/kjp.2012.55.2.48. Epub 2012 Feb 14. Korean J Pediatr. 2012. PMID: 22375149 Free PMC article.

6

Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation.

Choi JH, Lee BH, Jung CW, Kim YM, Jin HY, Kim JM, Kim GH, Hwang JS, Yang SW, Lee J, Yoo HW. Choi JH, et al. Among authors: lee bh, lee j. Horm Res Paediatr. 2012;77(6):388-93. doi: 10.1159/000339677. Horm Res Paediatr. 2012. PMID: 22777296 Free article.

7

A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome.

Lim JH, Seo EJ, Kim YM, Cho HJ, Lee JO, Cheon CK, Yoo HW. Lim JH, et al. Ann Lab Med. 2014 Sep;34(5):390-4. doi: 10.3343/alm.2014.34.5.390. Epub 2014 Aug 21. Ann Lab Med. 2014. PMID: 25187894 Free PMC article.

8

Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.

Jhang WK, Lee BH, Kim GH, Lee JO, Yoo HW. Jhang WK, et al. Cardiol Young. 2015 Aug;25(6):1093-8. doi: 10.1017/S1047951114001656. Epub 2014 Sep 12. Cardiol Young. 2015. PMID: 25216260

9

Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinism.

Lee BH, Lee J, Kim JM, Kang M, Kim GH, Choi JH, Kim J, Kim CJ, Kim DY, Kim SC, Yoo HW. Lee BH, et al. Among authors: lee j. Horm Res Paediatr. 2015;83(3):204-10. doi: 10.1159/000371445. Epub 2015 Mar 5. Horm Res Paediatr. 2015. PMID: 25765446

10

Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.

Kim JH, Shin YL, Yang S, Cheon CK, Cho JH, Lee BH, Kim GH, Lee JO, Seo EJ, Choi JH, Yoo HW. Kim JH, et al. Clin Endocrinol (Oxf). 2015 Dec;83(6):790-6. doi: 10.1111/cen.12944. Epub 2015 Oct 19. Clin Endocrinol (Oxf). 2015. PMID: 26384470

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