Chae JH - Search Results

1

Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases.

Hong SE, Kneissl J, Cho A, Kim MJ, Park S, Lee J, Woo S, Kim S, Kim JS, Kim SY, Jung S, Kim J, Shin JY, Chae JH, Choi M. Hong SE, et al. Among authors: chae jh. J Med Genet. 2022 Nov;59(11):1075-1081. doi: 10.1136/jmedgenet-2021-108307. Epub 2022 Apr 6. J Med Genet. 2022. PMID: 35387801 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. Among authors: chae jh. 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. Among authors: chae jh. Neuromuscul Disord. 2010 Aug;20(8):524-30. doi: 10.1016/j.nmd.2010.06.005. Neuromuscul Disord. 2010. PMID: 20620061

4

Infantile Pompe disease: clinical and genetic characteristics with an experience of enzyme replacement therapy.

Cho A, Kim SJ, Lim BC, Hwang H, Park JD, Kim GB, Jin DK, Lee J, Ki CS, Kim KJ, Hwang YS, Chae JH. Cho A, et al. Among authors: chae jh. J Child Neurol. 2012 Mar;27(3):319-24. doi: 10.1177/0883073811420295. Epub 2011 Sep 22. J Child Neurol. 2012. PMID: 21940687

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. Among authors: chae jh. 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

Electroencephalography in pediatric moyamoya disease: reappraisal of clinical value.

Cho A, Chae JH, Kim HM, Lim BC, Hwang H, Hwang YS, Phi JH, Kim SK, Wang KC, Cho BK, Kim KJ. Cho A, et al. Among authors: chae jh. Childs Nerv Syst. 2014 Mar;30(3):449-59. doi: 10.1007/s00381-013-2215-4. Epub 2013 Aug 13. Childs Nerv Syst. 2014. PMID: 23943190

7

Screening Autoimmune Anti-neuronal Antibodies in Pediatric Patients with Suspected Autoimmune Encephalitis.

Kim SY, Choi SA, Ryu HW, Kim H, Lim BC, Hwang H, Chae JH, Choi J, Kim KJ, Hwang YS, Lee ST, Chu K, Lee SK. Kim SY, et al. Among authors: chae jh. J Epilepsy Res. 2014 Dec 31;4(2):55-61. doi: 10.14581/jer.14012. eCollection 2014 Dec. J Epilepsy Res. 2014. PMID: 25625089 Free PMC article.

8

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.

Chae JH, Vasta V, Cho A, Lim BC, Zhang Q, Eun SH, Hahn SH. Chae JH, et al. J Med Genet. 2015 Mar;52(3):208-16. doi: 10.1136/jmedgenet-2014-102819. Epub 2015 Jan 29. J Med Genet. 2015. PMID: 25635128

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. Among authors: chae jh. 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

A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype.

Nam TS, Li W, Heo SH, Lee KH, Cho A, Shin JH, Kim YO, Chae JH, Kim DS, Kim MK, Choi SY. Nam TS, et al. Among authors: chae jh. Neuromuscul Disord. 2015 Nov;25(11):843-51. doi: 10.1016/j.nmd.2015.08.002. Epub 2015 Aug 11. Neuromuscul Disord. 2015. PMID: 26371419

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