Kim JB - Search Results

1

Novel de novo mutation in the KCNJ2 gene in a patient with Andersen-Tawil syndrome.

Kim JB, Chung KW. Kim JB, et al. Pediatr Neurol. 2009 Dec;41(6):464-6. doi: 10.1016/j.pediatrneurol.2009.07.010. Pediatr Neurol. 2009. PMID: 19931173

2

Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis.

Kil TH, Kim JB. Kil TH, et al. Among authors: kim jb. Eur J Paediatr Neurol. 2010 May;14(3):278-81. doi: 10.1016/j.ejpn.2009.08.004. Epub 2009 Oct 12. Eur J Paediatr Neurol. 2010. PMID: 19822448

3

Expression patterns of two potassium channel genes in skeletal muscle cells of patients with familial hypokalemic periodic paralysis.

Kim JB, Lee GM, Kim SJ, Yoon DH, Lee YH. Kim JB, et al. Among authors: kim sj. Neurol India. 2011 Jul-Aug;59(4):527-31. doi: 10.4103/0028-3886.84331. Neurol India. 2011. PMID: 21891927 Free article.

4

Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome.

Song YH, Kim GH, Yoo HW, Kim JB. Song YH, et al. Among authors: kim gh, kim jb. J Genet. 2012 Aug;91(2):233-5. doi: 10.1007/s12041-012-0165-3. J Genet. 2012. PMID: 22942097 No abstract available.

5

A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).

Kim JB, Lee KY, Hur JK. Kim JB, et al. J Korean Med Sci. 2005 Feb;20(1):162-5. doi: 10.3346/jkms.2005.20.1.162. J Korean Med Sci. 2005. PMID: 15716625 Free PMC article.

6

An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A.

Park YH, Kim JB. Park YH, et al. Among authors: kim jb. Korean J Pediatr. 2010 Oct;53(10):909-12. doi: 10.3345/kjp.2010.53.10.909. Epub 2010 Oct 31. Korean J Pediatr. 2010. PMID: 21189962 Free PMC article.

7

Transient neonatal diabetes mellitus caused by a de novoABCC8 gene mutation.

Kong JH, Kim JB. Kong JH, et al. Among authors: kim jb. Korean J Pediatr. 2011 Apr;54(4):179-82. doi: 10.3345/kjp.2011.54.4.179. Epub 2011 Apr 30. Korean J Pediatr. 2011. PMID: 21738553 Free PMC article.

8

Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A.

Han JY, Kim JB. Han JY, et al. Among authors: kim jb. Korean J Pediatr. 2011 Nov;54(11):470-2. doi: 10.3345/kjp.2011.54.11.470. Epub 2011 Nov 30. Korean J Pediatr. 2011. PMID: 22253644 Free PMC article.

9

Normokalemic periodic paralysis is not a distinct disease.

Song YW, Kim SJ, Heo TH, Kim MH, Kim JB. Song YW, et al. Among authors: kim sj, kim jb, kim mh. Muscle Nerve. 2012 Dec;46(6):914-6. doi: 10.1002/mus.23441. Epub 2012 Aug 24. Muscle Nerve. 2012. PMID: 22926674

10

The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.

Kim JB, Kim MH, Lee SJ, Kim DJ, Lee BC. Kim JB, et al. Among authors: kim dj, kim mh. J Korean Med Sci. 2007 Dec;22(6):946-51. doi: 10.3346/jkms.2007.22.6.946. J Korean Med Sci. 2007. PMID: 18162704 Free PMC article.

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