Kim MJ - Search Results

1

ITDetect: a method to detect internal tandem duplication of FMS-like tyrosine kinase (FLT3) from next-generation sequencing data with high sensitivity and clinical application.

Lee S, Sun CH, Jang H, Kim D, Yoon SS, Koh Y, Na SC, Cho SI, Kim MJ, Seong MW, Byun JM, Yun H. Lee S, et al. Among authors: kim d, kim mj. BMC Bioinformatics. 2023 Feb 23;24(1):62. doi: 10.1186/s12859-023-05173-8. BMC Bioinformatics. 2023. PMID: 36823555 Free PMC article.

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

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

5

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.

6

Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A.

Seo SH, Kim SY, Cho SI, Park H, Lee S, Choi JM, Kim MJ, Lee JS, Ahn KJ, Song MK, Bae EJ, Park SS, Seong MW. Seo SH, et al. Among authors: kim sy, kim mj. Ann Lab Med. 2018 Jan;38(1):54-58. doi: 10.3343/alm.2018.38.1.54. Ann Lab Med. 2018. PMID: 29071820 Free PMC article.

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

Pitfalls of ABO Genotyping Based on Targeted Single Nucleotide Variant Analysis Due to a Nondeletional O Allele Lacking c.261delG: First Report of ABO*O.09.01 in Korea.

Yang D, Kim B, Song DY, Kim TY, Kim MJ, Cho SI, Kim H, Seong MW, Park SS. Yang D, et al. Among authors: kim h, kim b, kim ty, kim mj. Ann Lab Med. 2019 Nov;39(6):599-601. doi: 10.3343/alm.2019.39.6.599. Ann Lab Med. 2019. PMID: 31240894 Free PMC article. No abstract available.

10

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

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