Choi M - Search Results

1

Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome.

Kang HG, Lee M, Lee KB, Hughes M, Kwon BS, Lee S, McNagny KM, Ahn YH, Ko JM, Ha IS, Choi M, Cheong HI. Kang HG, et al. Among authors: choi m. Exp Mol Med. 2017 Dec 15;49(12):e414. doi: 10.1038/emm.2017.227. Exp Mol Med. 2017. PMID: 29244787 Free PMC article.

2

Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.

Seo J, Choi IH, Lee JS, Yoo Y, Kim NK, Choi M, Ko JM, Shin YB. Seo J, et al. Among authors: choi m, choi ih. J Hum Genet. 2015 Apr;60(4):213-5. doi: 10.1038/jhg.2015.2. Epub 2015 Jan 22. J Hum Genet. 2015. PMID: 25608830

3

Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation.

Lee JS, Lee S, Lim BC, Kim KJ, Hwang YS, Choi M, Chae JH. Lee JS, et al. Among authors: choi m. Gene. 2015 Sep 15;569(2):318-22. doi: 10.1016/j.gene.2015.04.075. Epub 2015 Apr 30. Gene. 2015. PMID: 25936994

4

SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.

Ko JM, Jung S, Seo J, Shin CH, Cheong HI, Choi M, Kim OH, Cho TJ. Ko JM, et al. Among authors: choi m. J Hum Genet. 2016 Jun;61(6):561-4. doi: 10.1038/jhg.2015.174. Epub 2016 Jan 21. J Hum Genet. 2016. PMID: 26791357 Review.

5

Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation.

Ko JM, Seo J, Choi M, Song J, Lee KA, Shin CH. Ko JM, et al. Among authors: choi m. Ann Clin Lab Sci. 2016 Winter;46(1):97-101. Ann Clin Lab Sci. 2016. PMID: 26927351

6

Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.

Kim SY, Choi SA, Lee S, Lee JS, Hong CR, Lim BC, Kang HJ, Kim KJ, Park SH, Choi M, Chae JH. Kim SY, et al. Among authors: choi m, choi sa. Am J Med Genet A. 2016 Nov;170(11):3023-3027. doi: 10.1002/ajmg.a.37846. Epub 2016 Jul 13. Am J Med Genet A. 2016. PMID: 27411168

7

Ultra-rare Disease and Genomics-Driven Precision Medicine.

Lee S, Choi M. Lee S, et al. Among authors: choi m. Genomics Inform. 2016 Jun;14(2):42-5. doi: 10.5808/GI.2016.14.2.42. Epub 2016 Jun 30. Genomics Inform. 2016. PMID: 27445646 Free PMC article. Review.

8

eIF2B-related multisystem disorder in two sisters with atypical presentations.

Lee JS, Lee S, Choi M, Lim BC, Choi J, Kim KJ, Cheon JE, Kim IO, Chae JH. Lee JS, et al. Among authors: choi m, choi j. Eur J Paediatr Neurol. 2017 Mar;21(2):404-409. doi: 10.1016/j.ejpn.2016.07.010. Epub 2016 Jul 18. Eur J Paediatr Neurol. 2017. PMID: 28041799

9

Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.

Lee JS, Choi JM, Lee M, Kim SY, Lee S, Lim BC, Cheon JE, Kim IO, Kim KJ, Choi M, Seong MW, Chae JH. Lee JS, et al. Among authors: choi m, choi jm. Brain Dev. 2018 May;40(5):383-390. doi: 10.1016/j.braindev.2018.01.009. Epub 2018 Feb 10. Brain Dev. 2018. PMID: 29439846

10

Successful haploidentical transplantation with post-transplant cyclophosphamide for activated phosphoinositide 3-kinase δ syndrome.

Hong CR, Lee S, Hong KT, Choi JY, Shin HY, Choi M, Kang HJ. Hong CR, et al. Among authors: choi m, choi jy. J Allergy Clin Immunol Pract. 2019 Mar;7(3):1034-1037.e1. doi: 10.1016/j.jaip.2018.05.029. Epub 2018 Jun 8. J Allergy Clin Immunol Pract. 2019. PMID: 29890288 No abstract available.

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