Chae JH - 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: chae jh. Epilepsia. 2018 Feb;59(2):389-402. doi: 10.1111/epi.13986. Epub 2018 Jan 8. Epilepsia. 2018. PMID: 29315614 Free PMC article.

2

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: chae jh. Gene. 2015 Sep 15;569(2):318-22. doi: 10.1016/j.gene.2015.04.075. Epub 2015 Apr 30. Gene. 2015. PMID: 25936994

3

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: chae jh. 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

4

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: chae jh. 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

5

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: chae jh. J Child Neurol. 2017 Feb;32(2):237-242. doi: 10.1177/0883073816674095. Epub 2016 Oct 24. J Child Neurol. 2017. PMID: 27777327

6

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: chae jh. 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

7

Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation.

Kim H, Lee S, Choi M, Kim H, Hwang H, Choi J, Chae JH, Kim KJ, Lim BC. Kim H, et al. Among authors: chae jh. Brain Dev. 2018 May;40(5):429-432. doi: 10.1016/j.braindev.2018.01.006. Epub 2018 Feb 8. Brain Dev. 2018. PMID: 29428275

8

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: chae jh. 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

9

Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant.

Yoo D, Kim HJ, Lee JS, Lee S, Kim SY, Choi M, Chae JH, Jeon B. Yoo D, et al. Among authors: chae jh. Parkinsonism Relat Disord. 2018 May;50:124-125. doi: 10.1016/j.parkreldis.2018.02.012. Epub 2018 Feb 9. Parkinsonism Relat Disord. 2018. PMID: 29449182 No abstract available.

10

Neuropathy, Ataxia, Retinitis Pigmentosa-like Phenotype Associated with a Mitochondrial G8363A Mutation in a Family.

Kim S, Han J, Kim HA, Lim BC, Seo JE, Choi M, Kim KJ, Lee IG, Chae JH. Kim S, et al. Among authors: chae jh. Ann Clin Lab Sci. 2018 Jul;48(4):546-548. Ann Clin Lab Sci. 2018. PMID: 30143501 No abstract available.

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