Kim JW - Search Results

1

Disseminated hemangioblastomatosis of the central nervous system without von Hippel-Lindau disease: a case report.

Kim HR, Suh YL, Kim JW, Lee JI. Kim HR, et al. Among authors: kim jw. J Korean Med Sci. 2009 Aug;24(4):755-9. doi: 10.3346/jkms.2009.24.4.755. Epub 2009 Jul 30. J Korean Med Sci. 2009. PMID: 19654966 Free PMC article.

2

A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient.

Moon SY, Kim HY, Seok JI, Kwon JC, Ki CS, Kim JW, Suh YL, Na DL. Moon SY, et al. Among authors: kim hy, kim jw. J Korean Med Sci. 2003 Feb;18(1):141-4. doi: 10.3346/jkms.2003.18.1.141. J Korean Med Sci. 2003. PMID: 12589106 Free PMC article.

3

Two novel mutations in the C7 gene in a Korean patient with complement C7 deficiency.

Ki CS, Kim JW, Kim HJ, Choi SM, Ha GY, Kang HJ, Kim WD. Ki CS, et al. Among authors: kim hj, kim jw, kim wd. J Korean Med Sci. 2005 Apr;20(2):220-4. doi: 10.3346/jkms.2005.20.2.220. J Korean Med Sci. 2005. PMID: 15831990 Free PMC article.

4

Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B.

Hong JS, Ki CS, Kim JW, Suh YL, Kim JS, Baek KK, Kim BJ, Ahn KJ, Kim DK. Hong JS, et al. Among authors: kim dk, kim bj, kim js, kim jw. J Korean Med Sci. 2005 Apr;20(2):283-90. doi: 10.3346/jkms.2005.20.2.283. J Korean Med Sci. 2005. PMID: 15832002 Free PMC article.

5

A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.

Han SH, Ki CS, Lee JE, Hong YJ, Son BK, Lee KH, Choe YH, Lee SY, Kim JW. Han SH, et al. Among authors: kim jw. J Korean Med Sci. 2005 Jun;20(3):499-501. doi: 10.3346/jkms.2005.20.3.499. J Korean Med Sci. 2005. PMID: 15953877 Free PMC article.

6

GSTM1, GSTT1 and GSTP1 polymorphisms in the Korean population.

Cho HJ, Lee SY, Ki CS, Kim JW. Cho HJ, et al. Among authors: kim jw. J Korean Med Sci. 2005 Dec;20(6):1089-92. doi: 10.3346/jkms.2005.20.6.1089. J Korean Med Sci. 2005. PMID: 16361831 Free PMC article.

7

Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene.

Koh WJ, Ki CS, Kim JW, Kim JH, Lim SY. Koh WJ, et al. Among authors: kim jw, kim jh. J Korean Med Sci. 2006 Jun;21(3):563-6. doi: 10.3346/jkms.2006.21.3.563. J Korean Med Sci. 2006. PMID: 16778407 Free PMC article.

8

Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.

Cho HJ, Sung DH, Kim EJ, Yoon CH, Ki CS, Kim JW. Cho HJ, et al. Among authors: kim ej, kim jw. J Korean Med Sci. 2006 Aug;21(4):724-7. doi: 10.3346/jkms.2006.21.4.724. J Korean Med Sci. 2006. PMID: 16891820 Free PMC article.

9

X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family.

Cho HJ, Shin MY, Ahn KM, Lee SI, Kim HJ, Ki CS, Kim JW. Cho HJ, et al. Among authors: kim hj, kim jw. J Korean Med Sci. 2006 Oct;21(5):790-3. doi: 10.3346/jkms.2006.21.5.790. J Korean Med Sci. 2006. PMID: 17043407 Free PMC article.

10

A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis.

Lee JM, Kim AS, Lee SJ, Cho SM, Lee DS, Choi SM, Kim DK, Ki CS, Kim JW. Lee JM, et al. Among authors: kim as, kim dk, kim jw. J Korean Med Sci. 2006 Oct;21(5):954-7. doi: 10.3346/jkms.2006.21.5.954. J Korean Med Sci. 2006. PMID: 17043438 Free PMC article.

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