Ko JM - Search Results

1

Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis.

Sohn YB, Ko JM, Jang JY, Seong MW, Park SS, Suh DI, Ko JS, Shin CH. Sohn YB, et al. Among authors: ko js, ko jm. Eur J Med Genet. 2019 Aug;62(8):103681. doi: 10.1016/j.ejmg.2019.103681. Epub 2019 May 25. Eur J Med Genet. 2019. PMID: 31136843

2

Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.

Ko JM, Kim GH, Kim KM, Hong SJ, Yoo HW. Ko JM, et al. J Korean Med Sci. 2008 Oct;23(5):912-5. doi: 10.3346/jkms.2008.23.5.912. J Korean Med Sci. 2008. PMID: 18955805 Free PMC article.

3

The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.

Ko JM, Shin CH, Yang SW, Seong MW, Park SS, Song J. Ko JM, et al. J Korean Med Sci. 2012 Aug;27(8):961-4. doi: 10.3346/jkms.2012.27.8.961. Epub 2012 Jul 25. J Korean Med Sci. 2012. PMID: 22876067 Free PMC article.

4

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

5

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

6

An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in an Asian family.

Min BJ, Ko JM, Seo ME, Choi JS, Oh SK, Jeon J, Kim E, Moon JE, Choi IH, Lee C, Kim OH, Cho TJ, Park WY. Min BJ, et al. Among authors: ko jm. Eur J Med Genet. 2013 Oct;56(10):561-5. doi: 10.1016/j.ejmg.2013.06.011. Epub 2013 Jul 5. Eur J Med Genet. 2013. PMID: 23832104

7

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.

8

Living donor liver transplantation for an infant with osteogenesis imperfecta and intrahepatic cholestasis: report of a case.

Choi Y, Yi NJ, Ko JS, Ko JM, Jin US, Kim HS, Lee KH, Cho TJ, Suh SW, Yoo T, Lee KW, Suh KS. Choi Y, et al. Among authors: ko js, ko jm. J Korean Med Sci. 2014 Mar;29(3):441-4. doi: 10.3346/jkms.2014.29.3.441. Epub 2014 Feb 27. J Korean Med Sci. 2014. PMID: 24616597 Free PMC article.

9

Monochorionic dizygotic twins with discordant sex and confined blood chimerism.

Lee HJ, Yoon SC, Ko JM, Seong MW, Park SS, Choi JS, Oh SK. Lee HJ, et al. Among authors: ko jm. Eur J Pediatr. 2014 Sep;173(9):1249-52. doi: 10.1007/s00431-014-2312-8. Epub 2014 Apr 6. Eur J Pediatr. 2014. PMID: 24706113

10

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

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