Yoo HW - Search Results

1

Clinical and genetic analyses of patients with lateralized overgrowth.

Kim YM, Lee Y, Choi Y, Choi IH, Heo SH, Choi JM, Do HS, Jang JH, Yum MS, Yoo HW, Lee BH. Kim YM, et al. Among authors: yoo hw. BMC Med Genomics. 2022 Sep 30;15(1):206. doi: 10.1186/s12920-022-01362-1. BMC Med Genomics. 2022. PMID: 36175890 Free PMC article.

2

Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.

Yum MS, Ko TS, Yoo HW, Chung SJ. Yum MS, et al. Among authors: yoo hw. Pediatr Neurol. 2008 May;38(5):367-9. doi: 10.1016/j.pediatrneurol.2008.01.012. Pediatr Neurol. 2008. PMID: 18410856

3

The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.

Yum MS, Ko TS, Yoo HW. Yum MS, et al. Among authors: yoo hw. J Korean Med Sci. 2010 Feb;25(2):324-6. doi: 10.3346/jkms.2010.25.2.324. Epub 2010 Jan 22. J Korean Med Sci. 2010. PMID: 20119593 Free PMC article.

4

Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome.

Ko JM, Kim JM, Kim GH, Lee BH, Yoo HW. Ko JM, et al. Among authors: yoo hw. Clin Endocrinol (Oxf). 2010 Jul;73(1):66-71. doi: 10.1111/j.1365-2265.2010.03782.x. Epub 2010 Feb 10. Clin Endocrinol (Oxf). 2010. PMID: 20148908

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. Among authors: yoo hw. Pediatr Neurol. 2010 May;42(5):369-71. doi: 10.1016/j.pediatrneurol.2010.01.009. Pediatr Neurol. 2010. PMID: 20399395 Review.

6

Nonalcoholic fatty liver disease in 2 siblings with adult-onset type II citrullinemia.

Lee BH, Jin HY, Kim GH, Choi JH, Yoo HW. Lee BH, et al. Among authors: yoo hw. J Pediatr Gastroenterol Nutr. 2010 Jun;50(6):682-5. doi: 10.1097/MPG.0b013e3181d67fbf. J Pediatr Gastroenterol Nutr. 2010. PMID: 20400906 No abstract available.

7

Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.

Lee BH, Heo SH, Kim GH, Park JY, Kim WS, Kang DH, Choe KH, Kim WH, Yang SH, Yoo HW. Lee BH, et al. Among authors: yoo hw. J Hum Genet. 2010 Aug;55(8):512-7. doi: 10.1038/jhg.2010.58. Epub 2010 May 27. J Hum Genet. 2010. PMID: 20505683

8

Proteomic analysis of sera of asymptomatic, early-stage patients with Wilson's disease.

Park JY, Mun JH, Lee BH, Heo SH, Kim GH, Yoo HW. Park JY, et al. Among authors: yoo hw. Proteomics Clin Appl. 2009 Oct;3(10):1185-1190. doi: 10.1002/prca.200800057. Proteomics Clin Appl. 2009. PMID: 20556197 Free PMC article.

9

Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia.

Jin HY, Choi JH, Lee BH, Kim GH, Kim HK, Yoo HW. Jin HY, et al. Among authors: yoo hw. Eur J Pediatr. 2011 Apr;170(4):535-8. doi: 10.1007/s00431-010-1342-0. Epub 2010 Nov 6. Eur J Pediatr. 2011. PMID: 21057961

10

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: yoo hw. 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

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