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Items: 1 to 20 of 140

1.

Paroxysmal Dyskinesia in Children: from Genes to the Clinic.

Kim SY, Lee JS, Kim WJ, Kim H, Choi SA, Lim BC, Kim KJ, Chae JH.

J Clin Neurol. 2018 Oct;14(4):492-497. doi: 10.3988/jcn.2018.14.4.492. Epub 2018 Jul 12.

2.

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.

Ann Clin Lab Sci. 2018 Jul;48(4):546-548. No abstract available.

PMID:
30143501
3.

Development of a common platform for the noninvasive prenatal diagnosis of X-linked diseases.

Jang SS, Lim BC, Yoo SK, Shin JY, Seo JS, Hwang D, Yoo KY, Chae JH, Kim JI.

Prenat Diagn. 2018 Oct;38(11):835-840. doi: 10.1002/pd.5337. Epub 2018 Aug 29.

PMID:
30048567
4.

Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis.

Jang SS, Lim BC, Yoo SK, Shin JY, Kim KJ, Seo JS, Kim JI, Chae JH.

Sci Rep. 2018 Jun 6;8(1):8678. doi: 10.1038/s41598-018-26941-0.

5.

Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.

Lee JS, Hwang H, Kim SY, Kim KJ, Choi JS, Woo MJ, Choi YM, Jun JK, Lim BC, Chae JH.

Ann Lab Med. 2018 Sep;38(5):473-480. doi: 10.3343/alm.2018.38.5.473.

6.

Spike persistence and normalization in benign epilepsy with centrotemporal spikes - Implications for management.

Kim H, Kim SY, Lim BC, Hwang H, Chae JH, Choi J, Kim KJ, Dlugos DJ.

Brain Dev. 2018 Sep;40(8):693-698. doi: 10.1016/j.braindev.2018.04.011. Epub 2018 May 10.

PMID:
29754875
7.

Two Distinct Secretory Pathways for Differential Kv2.1 Localization in Neurons.

Lim BC, Liu CH.

J Neurosci. 2018 May 2;38(18):4261-4263. doi: 10.1523/JNEUROSCI.0236-18.2018. No abstract available.

PMID:
29720558
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.

Brain Dev. 2018 May;40(5):383-390. doi: 10.1016/j.braindev.2018.01.009. Epub 2018 Feb 10.

PMID:
29439846
9.

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.

Brain Dev. 2018 May;40(5):429-432. doi: 10.1016/j.braindev.2018.01.006. Epub 2018 Feb 8.

PMID:
29428275
10.

Collagen VI-related myopathy: Expanding the clinical and genetic spectrum.

Kim SY, Kim WJ, Kim H, Choi SA, Lee JS, Cho A, Jang SS, Lim BC, Kim KJ, Kim JI, Hahn SH, Chae JH.

Muscle Nerve. 2018 Sep;58(3):381-388. doi: 10.1002/mus.26093.

PMID:
29406609
11.

Anti-proliferative activity of a purified polysaccharide isolated from the basidiomycete fungus Paxillus involutus.

Barad A, Mackedenski S, Li WM, Li XJ, Lim BCC, Rashid F, Tackaberry LE, Massicotte HB, Egger KN, Reimer K, Cheung PCK, Lee CH.

Carbohydr Polym. 2018 Feb 1;181:923-930. doi: 10.1016/j.carbpol.2017.11.058. Epub 2017 Nov 16.

PMID:
29254055
12.

Surgical outcome and predictive factors of epilepsy surgery in pediatric isolated focal cortical dysplasia.

Choi SA, Kim SY, Kim H, Kim WJ, Kim H, Hwang H, Choi JE, Lim BC, Chae JH, Chong S, Lee JY, Phi JH, Kim SK, Wang KC, Kim KJ.

Epilepsy Res. 2018 Jan;139:54-59. doi: 10.1016/j.eplepsyres.2017.11.012. Epub 2017 Nov 27.

PMID:
29197666
13.

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.

Yoo Y, Jung J, Lee YN, Lee Y, Cho H, Na E, Hong J, Kim E, Lee JS, Lee JS, Hong C, Park SY, Wie J, Miller K, Shur N, Clow C, Ebel RS, DeBrosse SD, Henderson LB, Willaert R, Castaldi C, Tikhonova I, Bilg├╝var K, Mane S, Kim KJ, Hwang YS, Lee SG, So I, Lim BC, Choi HJ, Seong JY, Shin YB, Jung H, Chae JH, Choi M.

Ann Neurol. 2017 Sep;82(3):466-478. doi: 10.1002/ana.25032.

PMID:
28856709
14.

A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.

Choi SA, Kim SY, Yoon J, Choi J, Park SS, Seong MW, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Kim S, Lee YJ, Nam SO, Lim BC.

Ann Lab Med. 2017 Nov;37(6):516-521. doi: 10.3343/alm.2017.37.6.516.

15.

Factors Associated with Favorable Outcome of Topiramate Migraine Prophylaxis in Pediatric Patients.

Yoo IH, Kim W, Kim H, Lim BC, Hwang H, Chae JH, Choi J, Kim KJ.

J Clin Neurol. 2017 Jul;13(3):281-286. doi: 10.3988/jcn.2017.13.3.281.

16.

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.

Brain Dev. 2017 Oct;39(9):799-803. doi: 10.1016/j.braindev.2017.04.020. Epub 2017 Jun 28.

PMID:
28668235
17.

Large-scale structural alteration of brain in epileptic children with SCN1A mutation.

Lee YJ, Yum MS, Kim MJ, Shim WH, Yoon HM, Yoo IH, Lee J, Lim BC, Kim KJ, Ko TS.

Neuroimage Clin. 2017 Jun 6;15:594-600. doi: 10.1016/j.nicl.2017.06.002. eCollection 2017.

18.

Mandarin parents' evaluation of developmental status in the detection of delays.

Toh TH, Lim BC, Bujang MAB, Haniff J, Wong SC, Abdullah MR.

Pediatr Int. 2017 Aug;59(8):861-868. doi: 10.1111/ped.13325. Epub 2017 Jul 14.

PMID:
28510345
19.

FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.

Cho JS, Kim SH, Kim HY, Chung T, Kim D, Jang S, Lee SB, Yoo SK, Shin J, Kim JI, Kim H, Hwang H, Chae JH, Choi J, Kim KJ, Lim BC.

Epilepsy Res. 2017 Jan;129:118-124. doi: 10.1016/j.eplepsyres.2016.11.022. Epub 2016 Dec 2. Review.

PMID:
28043061
20.

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.

Eur J Paediatr Neurol. 2017 Mar;21(2):404-409. doi: 10.1016/j.ejpn.2016.07.010. Epub 2016 Jul 18.

PMID:
28041799

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