Lee JS - Search Results

1

A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder.

Kim SH, Lee JS, Lim BC, Kim KJ, Hwang YS, Park JD, Cheon JE, Kim IO, Kim BN, Chae JH. Kim SH, et al. Among authors: lee js. Brain Dev. 2014 Sep;36(8):734-7. doi: 10.1016/j.braindev.2013.09.009. Epub 2013 Nov 5. Brain Dev. 2014. PMID: 24199608

2

Biochemical and genetic analysis of Leigh syndrome patients in Korea.

Chae JH, Lee JS, Kim KJ, Hwang YS, Hirano M. Chae JH, et al. Among authors: lee js. Brain Dev. 2008 Jun;30(6):387-90. doi: 10.1016/j.braindev.2007.11.001. Epub 2007 Dec 21. Brain Dev. 2008. PMID: 18155376 Free PMC article.

3

Merosin-deficient congenital muscular dystrophy in Korea.

Chae JH, Lee JS, Hwang H, Kim KJ, Hwang YS, Park JD, Cheon JE, Kim IO, Choe GY, Park SH. Chae JH, et al. Among authors: lee js. Brain Dev. 2009 May;31(5):341-6. doi: 10.1016/j.braindev.2008.06.009. Epub 2008 Aug 23. Brain Dev. 2009. PMID: 18723302

4

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. 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

5

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. 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

6

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. Epileptic Disord. 2014 Dec;16(4):449-55. doi: 10.1684/epd.2014.0712. Epileptic Disord. 2014. PMID: 25498131 Free article.

7

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. Pediatr Int. 2014 Dec;56(6):e88-e91. doi: 10.1111/ped.12442. Pediatr Int. 2014. PMID: 25521991

8

Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation.

Lee JS, Lee S, Lim BC, Kim KJ, Hwang YS, Choi M, Chae JH. Lee JS, et al. Among authors: lee s. Gene. 2015 Sep 15;569(2):318-22. doi: 10.1016/j.gene.2015.04.075. Epub 2015 Apr 30. Gene. 2015. PMID: 25936994

9

Leigh Syndrome in Childhood: Neurologic Progression and Functional Outcome.

Lee JS, Kim H, Lim BC, Hwang H, Choi J, Kim KJ, Hwang YS, Chae JH. Lee JS, et al. J Clin Neurol. 2016 Apr;12(2):181-7. doi: 10.3988/jcn.2016.12.2.181. J Clin Neurol. 2016. PMID: 27074294 Free PMC article.

10

GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.

Lee JS, Yoo Y, Lim BC, Kim KJ, Song J, Choi M, Chae JH. Lee JS, et al. Am J Med Genet A. 2016 Aug;170(8):2200-5. doi: 10.1002/ajmg.a.37773. Epub 2016 May 27. Am J Med Genet A. 2016. PMID: 27232954

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