Chae J - Search Results

1

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH, Chae J, Choi S, Kim MJ, Choi M, Chae JH, Cho EH, Hwang TJ, Jang SS, Kim JI, Park KS, Bang YJ. Kwak SH, et al. Among authors: chae jh, chae j. Exp Mol Med. 2017 Jul 14;49(7):e356. doi: 10.1038/emm.2017.142. Exp Mol Med. 2017. PMID: 28706299 Free PMC article.

2

A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease.

Kim H, Cho A, Lim BC, Kim MJ, Kim KJ, Nishino I, Hwang YS, Chae JH. Kim H, et al. Muscle Nerve. 2010 Jun;41(6):879-82. doi: 10.1002/mus.21614. Muscle Nerve. 2010. PMID: 20513107

3

Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea.

Lim BC, Ki CS, Kim JW, Cho A, Kim MJ, Hwang H, Kim KJ, Hwang YS, Park WY, Lim YJ, Kim IO, Lee JS, Chae JH. Lim BC, et al. Neuromuscul Disord. 2010 Aug;20(8):524-30. doi: 10.1016/j.nmd.2010.06.005. Neuromuscul Disord. 2010. PMID: 20620061

4

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. 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.

5

Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform.

Lim BC, Lee S, Shin JY, Kim JI, Hwang H, Kim KJ, Hwang YS, Seo JS, Chae JH. Lim BC, et al. J Med Genet. 2011 Nov;48(11):731-6. doi: 10.1136/jmedgenet-2011-100133. Epub 2011 Oct 3. J Med Genet. 2011. PMID: 21969337

6

Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technology.

Lim BC, Lee S, Shin JY, Hwang H, Kim KJ, Hwang YS, Seo JS, Kim JI, Chae JH. Lim BC, et al. Neuromuscul Disord. 2013 Apr;23(4):337-44. doi: 10.1016/j.nmd.2013.01.007. Epub 2013 Mar 1. Neuromuscul Disord. 2013. PMID: 23453855

7

Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.

Lim BC, Yoo SK, Lee S, Shin JY, Hwang H, Chae JH, Hwang YS, Seo JS, Kim JI, Kim KJ. Lim BC, et al. Gene. 2014 Aug 10;546(2):425-9. doi: 10.1016/j.gene.2014.06.011. Epub 2014 Jun 7. Gene. 2014. PMID: 24914498

8

Noninvasive prenatal diagnosis of duchenne muscular dystrophy: comprehensive genetic diagnosis in carrier, proband, and fetus.

Yoo SK, Lim BC, Byeun J, Hwang H, Kim KJ, Hwang YS, Lee J, Park JS, Lee YS, Namkung J, Park J, Lee S, Shin JY, Seo JS, Kim JI, Chae JH. Yoo SK, et al. Among authors: chae jh. Clin Chem. 2015 Jun;61(6):829-37. doi: 10.1373/clinchem.2014.236380. Epub 2015 Apr 6. Clin Chem. 2015. PMID: 25847990 Free article.

9

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. Gene. 2015 Sep 15;569(2):318-22. doi: 10.1016/j.gene.2015.04.075. Epub 2015 Apr 30. Gene. 2015. PMID: 25936994

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. Among authors: chae jh. 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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