Kim MJ - Search Results

1

Early-onset autosomal dominant GTP-cyclohydrolase I deficiency: Diagnostic delay and residual motor signs.

Kim W, Cho JS, Shim YK, Ko YJ, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Choi J, Kim KJ, Kim MJ, Seong MW, Chae JH. Kim W, et al. Among authors: kim kj, kim h, kim sy, kim mj. Brain Dev. 2021 Aug;43(7):759-767. doi: 10.1016/j.braindev.2021.02.006. Epub 2021 Apr 17. Brain Dev. 2021. PMID: 33875303

2

Pitfalls of Multiple Ligation-Dependent Probe Amplifications in Detecting DMD Exon Deletions or Duplications.

Kim MJ, Cho SI, Chae JH, Lim BC, Lee JS, Lee SJ, Seo SH, Park H, Cho A, Kim SY, Kim JY, Park SS, Seong MW. Kim MJ, et al. Among authors: kim jy, kim sy. J Mol Diagn. 2016 Mar;18(2):253-9. doi: 10.1016/j.jmoldx.2015.11.002. Epub 2015 Dec 29. J Mol Diagn. 2016. PMID: 26743743 Free article.

3

Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.

Lee JS, Lee JH, Lee KE, Kim JH, Hong JM, Ra EK, Seo SH, Lee SJ, Kim MJ, Park SS, Seong MW. Lee JS, et al. Among authors: kim mj, kim jh. BMC Med Genet. 2016 Jul 20;17(1):48. doi: 10.1186/s12881-016-0306-2. BMC Med Genet. 2016. PMID: 27439424 Free PMC article.

4

Viral RNA in Blood as Indicator of Severe Outcome in Middle East Respiratory Syndrome Coronavirus Infection.

Kim SY, Park SJ, Cho SY, Cha RH, Jee HG, Kim G, Shin HS, Kim Y, Jung YM, Yang JS, Kim SS, Cho SI, Kim MJ, Lee JS, Lee SJ, Seo SH, Park SS, Seong MW. Kim SY, et al. Among authors: kim ss, kim g, kim y, kim mj. Emerg Infect Dis. 2016 Oct;22(10):1813-6. doi: 10.3201/eid2210.160218. Epub 2016 Oct 15. Emerg Infect Dis. 2016. PMID: 27479636 Free PMC article.

5

Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR).

Seo SH, Kim MJ, Park SW, Kim JH, Yu YS, Song JY, Cho SI, Ahn JH, Oh YH, Lee JS, Lee S, Seong MW, Park SS, Kim JY. Seo SH, et al. Among authors: kim jy, kim mj, kim jh. Invest Ophthalmol Vis Sci. 2016 Dec 1;57(15):6902-6908. doi: 10.1167/iovs.16-20585. Invest Ophthalmol Vis Sci. 2016. PMID: 28002565

6

Evaluation of a Real-Time Reverse Transcription-PCR (RT-PCR) Assay for Detection of Middle East Respiratory Syndrome Coronavirus (MERS-CoV) in Clinical Samples from an Outbreak in South Korea in 2015.

Lee JS, Ahn JS, Yu BS, Cho SI, Kim MJ, Choi JM, Seo SH, Park SS, Seong MW. Lee JS, et al. Among authors: kim mj. J Clin Microbiol. 2017 Aug;55(8):2554-2555. doi: 10.1128/JCM.00667-17. Epub 2017 May 31. J Clin Microbiol. 2017. PMID: 28566313 Free PMC article. No abstract available.

7

Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort.

Lee JS, Oh S, Park SK, Lee MH, Lee JW, Kim SW, Son BH, Noh DY, Lee JE, Park HL, Kim MJ, Cho SI, Lee YK, Park SS, Seong MW. Lee JS, et al. Among authors: kim sw, kim mj. J Med Genet. 2018 Dec;55(12):794-802. doi: 10.1136/jmedgenet-2018-105565. Epub 2018 Nov 10. J Med Genet. 2018. PMID: 30415210

8

Evaluation of the new Abbott Real-Time EBV assay: fully automated quantification of EBV in whole blood by targeting BLLF1.

Lee JS, Yoon M, Kim MJ, Cho SI, Seong MW, Park SS, Kim JY. Lee JS, et al. Among authors: kim jy, kim mj. Diagn Microbiol Infect Dis. 2019 Jun;94(2):135-139. doi: 10.1016/j.diagmicrobio.2018.12.015. Epub 2019 Jan 3. Diagn Microbiol Infect Dis. 2019. PMID: 30777343

9

Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance.

Choi SA, Cho A, Kim SY, Kim WJ, Shim YK, Lee JS, Jang SS, Lim BC, Kim H, Hwang H, Choi JE, Kim KJ, Kim MJ, Seong MW, Chae JH. Choi SA, et al. Among authors: kim kj, kim h, kim wj, kim sy, kim mj. Muscle Nerve. 2019 Dec;60(6):668-672. doi: 10.1002/mus.26700. Epub 2019 Sep 30. Muscle Nerve. 2019. PMID: 31498906

10

Replication-Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease.

Seo SH, Bacolla A, Yoo D, Koo YJ, Cho SI, Kim MJ, Seong MW, Kim HJ, Kim JM, Tainer JA, Park SS, Kim JY, Jeon B. Seo SH, et al. Among authors: kim jy, kim hj, kim jm, kim mj. Mov Disord. 2020 May;35(5):868-876. doi: 10.1002/mds.27998. Epub 2020 Feb 10. Mov Disord. 2020. PMID: 32039503 Free PMC article.

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