Ko JM - Search Results

1

Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study.

Lee CG, Park SJ, Yun JN, Ko JM, Kim HJ, Yim SY, Sohn YB. Lee CG, et al. Among authors: ko jm. Yonsei Med J. 2013 Nov;54(6):1463-70. doi: 10.3349/ymj.2013.54.6.1463. Yonsei Med J. 2013. PMID: 24142652 Free PMC article.

2

Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome.

Ko JM, Kim JB, Pai KS, Yun JN, Park SJ. Ko JM, et al. J Korean Med Sci. 2010 Dec;25(12):1798-801. doi: 10.3346/jkms.2010.25.12.1798. Epub 2010 Nov 24. J Korean Med Sci. 2010. PMID: 21165297 Free PMC article.

3

Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases.

Park SJ, Jung EH, Ryu RS, Kang HW, Ko JM, Kim HJ, Cheon CK, Hwang SH, Kang HY. Park SJ, et al. Among authors: ko jm. Mol Cytogenet. 2011 May 9;4:12. doi: 10.1186/1755-8166-4-12. Mol Cytogenet. 2011. PMID: 21549014 Free PMC article.

4

Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.

Ko JM, Yang JA, Jeong SY, Kim HJ. Ko JM, et al. Mol Med Rep. 2012 Apr;5(4):943-8. doi: 10.3892/mmr.2012.764. Epub 2012 Jan 25. Mol Med Rep. 2012. PMID: 22294196 Free PMC article.

5

Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.

Sohn YB, Lee CG, Ko JM, Yang JA, Yun JN, Jung EJ, Jin HS, Park SJ, Jeong SY. Sohn YB, et al. Among authors: ko jm. J Hum Genet. 2013 Feb;58(2):73-7. doi: 10.1038/jhg.2012.135. Epub 2012 Nov 29. J Hum Genet. 2013. PMID: 23190751

6

Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.

Ko JM, Sohn YB, Jeong SY, Kim HJ, Messiaen LM. Ko JM, et al. Pediatr Neurol. 2013 Jun;48(6):447-53. doi: 10.1016/j.pediatrneurol.2013.02.004. Pediatr Neurol. 2013. PMID: 23668869

7

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.

Cheon CK, Sohn YB, Ko JM, Lee YJ, Song JS, Moon JW, Yang BK, Ha IS, Bae EJ, Jin HS, Jeong SY. Cheon CK, et al. Among authors: ko jm. J Hum Genet. 2014 Jun;59(6):321-5. doi: 10.1038/jhg.2014.25. Epub 2014 Apr 17. J Hum Genet. 2014. PMID: 24739679

8

First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.

Park SH, Lee JE, Sohn YB, Ko JM. Park SH, et al. Among authors: ko jm. Ann Clin Lab Sci. 2014 Spring;44(2):228-31. Ann Clin Lab Sci. 2014. PMID: 24795065

9

A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.

Choi JH, Lee BH, Ko JM, Sohn YB, Lee JS, Kim GH, Heo SH, Park JY, Kim YM, Kim JH, Yoo HW. Choi JH, et al. Among authors: ko jm. J Korean Med Sci. 2015 Apr;30(4):378-84. doi: 10.3346/jkms.2015.30.4.378. Epub 2015 Mar 19. J Korean Med Sci. 2015. PMID: 25829804 Free PMC article. Clinical Trial.

10

Erratum: A Phase 2 Multi-center, Open-label, Switch-over Trial to Evaluate the Safety and Efficacy of Abcertin® in Patients with Type 1 Gaucher Disease.

Choi JH, Lee BH, Ko JM, Sohn YB, Lee JS, Kim GH, Heo SH, Park JY, Kim YM, Kim JH, Yoo HW. Choi JH, et al. Among authors: ko jm. J Korean Med Sci. 2015 Sep;30(9):1373. doi: 10.3346/jkms.2015.30.9.1373. J Korean Med Sci. 2015. PMID: 26339182 Free PMC article. No abstract available.

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