Kim MJ - Search Results

1

Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.

Park S, Jang SS, Lee S, Kim M, Sim H, Jeon H, Hong SE, Lee J, Lee J, Jeon EY, Lee J, Lee CR, Kim SY, Kim MJ, Yoon JG, Lim BC, Kim WJ, Kim KJ, Ko JM, Cho A, Lee JS, Choi M, Chae JH. Park S, et al. Among authors: kim kj, kim wj, kim sy, kim m, kim mj. Front Genet. 2022 Sep 12;13:990015. doi: 10.3389/fgene.2022.990015. eCollection 2022. Front Genet. 2022. PMID: 36212160 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

Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy.

Heo YJ, Ko JM, Lee YA, Shin CH, Yang SW, Kim MJ, Park SS. Heo YJ, et al. Among authors: kim mj. Ann Pediatr Endocrinol Metab. 2018 Dec;23(4):220-225. doi: 10.6065/apem.2018.23.4.220. Epub 2018 Dec 31. Ann Pediatr Endocrinol Metab. 2018. PMID: 30599484 Free PMC article.

4

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

5

Lentigo maligna in a patient with xeroderma pigmentosum, variant type: A case report with dermoscopic findings and review of the literature.

Bang E, Kim YE, Ko JM, Kim MJ, Park SS, Seong MW, Mun JH. Bang E, et al. Among authors: kim ye, kim mj. Photodermatol Photoimmunol Photomed. 2020 Sep;36(5):401-404. doi: 10.1111/phpp.12568. Epub 2020 May 21. Photodermatol Photoimmunol Photomed. 2020. PMID: 32379927 No abstract available.

6

Novel compound heterozygous ACO2 mutations in an infant with progressive encephalopathy: A newly identified neurometabolic syndrome.

Park JS, Kim MJ, Kim SY, Lim BC, Kim KJ, Seong MW, Lee JS, Chae JH. Park JS, et al. Among authors: kim kj, kim sy, kim mj. Brain Dev. 2020 Oct;42(9):680-685. doi: 10.1016/j.braindev.2020.07.003. Epub 2020 Jul 24. Brain Dev. 2020. PMID: 32713659

7

Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.

Park HJ, Shin CH, Yoo WJ, Cho TJ, Kim MJ, Seong MW, Park SS, Lee JH, Sim NS, Ko JM. Park HJ, et al. Among authors: kim mj. Orphanet J Rare Dis. 2020 Aug 10;15(1):205. doi: 10.1186/s13023-020-01480-y. Orphanet J Rare Dis. 2020. PMID: 32778138 Free PMC article.

8

A case of CHOPS syndrome accompanied with moyamoya disease and systemic vasculopathy.

Kim SY, Kim MJ, Kim SJ, Lee JE, Chae JH, Ko JM. Kim SY, et al. Among authors: kim sj, kim mj. Brain Dev. 2021 Mar;43(3):454-458. doi: 10.1016/j.braindev.2020.11.004. Epub 2020 Nov 26. Brain Dev. 2021. PMID: 33248856

9

Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing.

Kim B, Kim MJ, Hur K, Jo SJ, Ko JM, Park SS, Seong MW, Mun JH. Kim B, et al. Among authors: kim mj. Sci Rep. 2021 Jan 13;11(1):1163. doi: 10.1038/s41598-020-80867-0. Sci Rep. 2021. PMID: 33441926 Free PMC article.

10

Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene.

Kim HY, Song HB, Kim KH, Kim JH, Chae JH, Kim MJ, Seong MW, Ko JM. Kim HY, et al. Among authors: kim kh, kim mj, kim jh. Exp Dermatol. 2021 May;30(5):676-683. doi: 10.1111/exd.14313. Epub 2021 Mar 10. Exp Dermatol. 2021. PMID: 33655605

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