Choi M - Search Results

1

Biallelic mutations in ABCB1 display recurrent reversible encephalopathy.

Seo J, Lee CR, Paeng JC, Kwon HW, Lee D, Kim SC, Han J, Ku JL, Chae JH, Lim BC, Choi M. Seo J, et al. Among authors: choi m. Ann Clin Transl Neurol. 2020 Aug;7(8):1443-1449. doi: 10.1002/acn3.51125. Epub 2020 Jul 5. Ann Clin Transl Neurol. 2020. PMID: 32627353 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

Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4.

Lee S, Moon JS, Lee CR, Kim HE, Baek SM, Hwang S, Kang GH, Seo JK, Shin CH, Kang HJ, Ko JS, Park SG, Choi M. Lee S, et al. Among authors: choi m. J Allergy Clin Immunol. 2016 Jan;137(1):327-330. doi: 10.1016/j.jaci.2015.08.036. Epub 2015 Oct 21. J Allergy Clin Immunol. 2016. PMID: 26478010 Free article. No abstract available.

5

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.

6

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

7

GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.

Lee JS, Yoo Y, Lim BC, Kim KJ, Song J, Choi M, Chae JH. Lee JS, et al. Among authors: choi m. Am J Med Genet A. 2016 Aug;170(8):2200-5. doi: 10.1002/ajmg.a.37773. Epub 2016 May 27. Am J Med Genet A. 2016. PMID: 27232954

8

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

9

Epigenetic regulation of Kcna3-encoding Kv1.3 potassium channel by cereblon contributes to regulation of CD4+ T-cell activation.

Kang JA, Park SH, Jeong SP, Han MH, Lee CR, Lee KM, Kim N, Song MR, Choi M, Ye M, Jung G, Lee WW, Eom SH, Park CS, Park SG. Kang JA, et al. Among authors: choi m. Proc Natl Acad Sci U S A. 2016 Aug 2;113(31):8771-6. doi: 10.1073/pnas.1502166113. Epub 2016 Jul 20. Proc Natl Acad Sci U S A. 2016. PMID: 27439875 Free PMC article.

10

Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

Min Ko J, Cho JS, Yoo Y, Seo J, Choi M, Chae JH, Lee HR, Cho TJ. Min Ko J, et al. Among authors: choi m. J Child Neurol. 2017 Feb;32(2):237-242. doi: 10.1177/0883073816674095. Epub 2016 Oct 24. J Child Neurol. 2017. PMID: 27777327

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

8,892 results

Search Page

Filters