Yoo HW - Search Results

1

Six cases of citrin deficiency in Korea.

Ko JM, Kim GH, Kim JH, Kim JY, Choi JH, Ushikai M, Saheki T, Kobayashi K, Yoo HW. Ko JM, et al. Among authors: yoo hw. Int J Mol Med. 2007 Dec;20(6):809-15. Int J Mol Med. 2007. PMID: 17982687

2

Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia.

Yoo HW, Shin YL, Seo EJ, Kim GH. Yoo HW, et al. Eur J Pediatr. 2002 Jun;161(6):351-3. doi: 10.1007/s00431-002-0931-y. Epub 2002 Apr 16. Eur J Pediatr. 2002. PMID: 12029458

3

Identification of two novel mutations of IRF6 in Korean families affected with Van der Woude syndrome.

Kim Y, Park JY, Lee TJ, Yoo HW. Kim Y, et al. Among authors: yoo hw. Int J Mol Med. 2003 Oct;12(4):465-8. Int J Mol Med. 2003. PMID: 12964020

4

Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging.

Kim SS, Kim Y, Shin YL, Kim GH, Kim TU, Yoo HW. Kim SS, et al. Among authors: yoo hw. Horm Res. 2003;60(6):277-83. doi: 10.1159/000074245. Horm Res. 2003. PMID: 14646405

5

Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.

Choi JH, Shin YL, Kim GH, Kim Y, Park S, Park JY, Oh C, Yoo HW. Choi JH, et al. Among authors: yoo hw. Horm Res. 2005;63(4):200-5. doi: 10.1159/000085557. Epub 2005 Apr 28. Horm Res. 2005. PMID: 15860922

6

Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome.

Choi JH, Shin YL, Kim GH, Seo EJ, Kim Y, Park IS, Yoo HW. Choi JH, et al. Among authors: yoo hw. Horm Res. 2005;63(6):294-9. doi: 10.1159/000086745. Epub 2005 Jul 1. Horm Res. 2005. PMID: 15995343

7

Treatment of hyperlipidemia associated with Niemann-Pick disease type B by fenofibrate.

Choi JH, Shin YL, Kim GH, Hong SJ, Yoo HW. Choi JH, et al. Among authors: yoo hw. Eur J Pediatr. 2006 Feb;165(2):138-9. doi: 10.1007/s00431-005-0009-8. Epub 2005 Oct 7. Eur J Pediatr. 2006. PMID: 16211396 No abstract available.

8

Two novel mutations of the NOTCH3 gene in Korean patients with CADASIL.

Kim Y, Kim JS, Kim G, No YJ, Yoo HW. Kim Y, et al. Among authors: yoo hw. Mutat Res. 2006 Jan 29;593(1-2):116-20. doi: 10.1016/j.mrfmmm.2005.06.031. Epub 2005 Oct 26. Mutat Res. 2006. PMID: 16256149

9

Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia.

Shin YL, Choi JH, Kim GH, Yoo HW. Shin YL, et al. Among authors: yoo hw. J Pediatr Endocrinol Metab. 2005 Oct;18(10):999-1005. doi: 10.1515/jpem.2005.18.10.999. J Pediatr Endocrinol Metab. 2005. PMID: 16355813

10

Novel mutations in the human elastin gene (ELN) causing isolated supravalvular aortic stenosis.

Park S, Seo EJ, Yoo HW, Kim Y. Park S, et al. Among authors: yoo hw. Int J Mol Med. 2006 Aug;18(2):329-32. Int J Mol Med. 2006. PMID: 16820942

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