Choi M - Search Results

1

Defining the phenotypic spectrum of SLC6A1 mutations.

Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL 2nd, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS. Johannesen KM, et al. Among authors: choi m. Epilepsia. 2018 Feb;59(2):389-402. doi: 10.1111/epi.13986. Epub 2018 Jan 8. Epilepsia. 2018. PMID: 29315614 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

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

5

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

6

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

7

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

8

Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy.

Lee JS, Seo J, Cho A, Lim BC, Choi M, Kim JW, Kim OH, Cho TJ, Chae JH. Lee JS, et al. Among authors: choi m. Brain Dev. 2017 Oct;39(9):799-803. doi: 10.1016/j.braindev.2017.04.020. Epub 2017 Jun 28. Brain Dev. 2017. PMID: 28668235

9

Reply to "a novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett-like phenotype".

Yoo Y, Cho J, Choi M. Yoo Y, et al. Among authors: choi m. Ann Neurol. 2018 Feb;83(2):439. doi: 10.1002/ana.25154. Ann Neurol. 2018. PMID: 29377213 No abstract available.

10

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

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