Chae JH - Search Results

1

False homozygous deletions of SMN1 exon 7 using Dra I PCR-RFLP caused by a novel mutation in spinal muscular atrophy.

Kang SH, Cho SI, Chae JH, Chung KN, Ra EK, Kim SY, Seong MW, Kim JY, Park SS. Kang SH, et al. Among authors: chae jh. Genet Test Mol Biomarkers. 2009 Aug;13(4):511-3. doi: 10.1089/gtmb.2008.0158. Genet Test Mol Biomarkers. 2009. PMID: 19663601

2

Congenital subependymal giant cell astrocytoma: clinical considerations and expression of radial glial cell markers in giant cells.

Phi JH, Park SH, Chae JH, Hong KH, Park SS, Kang JH, Jun JK, Cho BK, Wang KC, Kim SK. Phi JH, et al. Among authors: chae jh. Childs Nerv Syst. 2008 Dec;24(12):1499-503. doi: 10.1007/s00381-008-0681-x. Epub 2008 Jul 16. Childs Nerv Syst. 2008. PMID: 18629509

3

Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans.

Kim SY, Kim JY, Kim GP, Sung JJ, Lim KS, Lee KW, Chae JH, Hong YH, Seong MW, Park SS. Kim SY, et al. Among authors: chae jh. Korean J Lab Med. 2008 Dec;28(6):483-92. doi: 10.3343/kjlm.2008.28.6.483. Korean J Lab Med. 2008. PMID: 19127114

4

Glutaric aciduria type 1 in Korea: report of two novel mutations.

Park JD, Lim B, Kim KJ, Hwang YS, Kim SK, Kang SH, Cho SI, Park SS, Lee JS, Chae JH. Park JD, et al. Among authors: chae jh. J Korean Med Sci. 2010 Jun;25(6):957-60. doi: 10.3346/jkms.2010.25.6.957. Epub 2010 May 24. J Korean Med Sci. 2010. PMID: 20514322 Free PMC article.

5

SCN1A mutational analysis in Korean patients with Dravet syndrome.

Lim BC, Hwang H, Chae JH, Choi JE, Hwang YS, Kang SH, Ki CS, Kim KJ. Lim BC, et al. Among authors: chae jh. Seizure. 2011 Dec;20(10):789-94. doi: 10.1016/j.seizure.2011.08.002. Epub 2011 Aug 24. Seizure. 2011. PMID: 21868258 Free article.

6

Menkes disease in Korea: ATP7A mutation and epilepsy phenotype.

Lee JS, Lim BC, Kim KJ, Hwang YS, Cheon JE, Kim IO, Seong MW, Park SS, Chae JH. Lee JS, et al. Among authors: chae jh. Brain Dev. 2015 Feb;37(2):223-9. doi: 10.1016/j.braindev.2014.04.012. Epub 2014 May 29. Brain Dev. 2015. PMID: 24882692

7

Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.

Lee JS, Byun CK, Kim H, Lim BC, Hwang H, Choi JE, Hwang YS, Seong MW, Park SS, Kim KJ, Chae JH. Lee JS, et al. Among authors: chae jh. Brain Dev. 2015 Apr;37(4):402-8. doi: 10.1016/j.braindev.2014.07.007. Epub 2014 Aug 6. Brain Dev. 2015. PMID: 25108505

8

Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.

Lee JS, Lim BC, Chae JH, Hwang YS, Seong MW, Park SS, Kim KJ. Lee JS, et al. Among authors: chae jh. Epileptic Disord. 2014 Dec;16(4):449-55. doi: 10.1684/epd.2014.0712. Epileptic Disord. 2014. PMID: 25498131 Free article.

9

Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.

Lee JS, Lim BC, Kim KJ, Hwang YS, Seong MW, Park SS, Park SH, Chae JH. Lee JS, et al. Among authors: chae jh. Pediatr Int. 2014 Dec;56(6):e88-e91. doi: 10.1111/ped.12442. Pediatr Int. 2014. PMID: 25521991

10

Non-homologous end joining repair mechanism-mediated deletion of CHD7 gene in a patient with typical CHARGE syndrome.

Lee SJ, Chae JH, Lee JA, Cho SI, Seo SH, Park H, Seong MW, Park SS. Lee SJ, et al. Among authors: chae jh. Ann Lab Med. 2015 Jan;35(1):141-5. doi: 10.3343/alm.2015.35.1.141. Epub 2014 Dec 8. Ann Lab Med. 2015. PMID: 25553296 Free PMC article.

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