Ki-Joong Kim - Publications

Affiliations: 
1989-1994 Korea Universisty 

73 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Choi J, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Chae JH, Kim KJ, Oh S, Kim EY, Shin JS. Association Analysis of Interleukin-1β, Interleukin-6, and HMGB1 Variants with Postictal Serum Cytokine Levels in Children with Febrile Seizure and Generalized Epilepsy with Febrile Seizure Plus. Journal of Clinical Neurology (Seoul, Korea). 15: 555-563. PMID 31591845 DOI: 10.3988/jcn.2019.15.4.555  0.4
2019 Yoo IH, Kim W, Cho J, Kim H, Lim BC, Hwang H, Chae JH, Choi J, Kim KJ. Elevated Serum Uric Acid in Benign Convulsions with Mild Gastroenteritis in Children. Journal of Clinical Neurology (Seoul, Korea). 15: 496-501. PMID 31591838 DOI: 10.3988/jcn.2019.15.4.496  0.4
2019 Jang SS, Kim SY, Kim H, Hwang H, Chae JH, Kim KJ, Kim JI, Lim BC. Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life. Frontiers in Neurology. 10: 988. PMID 31572294 DOI: 10.3389/fneur.2019.00988  0.4
2019 Kim W, Shim YK, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Choi J, Kim KJ, Chae JH. Chronic inflammatory demyelinating polyneuropathy: Plasmapheresis or cyclosporine can be good treatment options in refractory cases. Neuromuscular Disorders : Nmd. PMID 31473049 DOI: 10.1016/j.nmd.2019.06.010  0.4
2019 Kim SY, Jang SS, Kim JI, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Lim BC. Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies. Seizure. 71: 222-228. PMID 31401500 DOI: 10.1016/j.seizure.2019.07.024  0.4
2019 Lee JS, Lim BC, Kim KJ, Kim SK, Kim OH, Kim JG, Park SG, Cho TJ, Chae JH. A Case of Familial Spondyloenchondrodysplasia with Immune Dysregulation Masquerading as Moyamoya Syndrome. Journal of Clinical Neurology (Seoul, Korea). 15: 407-409. PMID 31286717 DOI: 10.3988/jcn.2019.15.3.407  0.4
2019 Kim SY, Lim BC, Lee JS, Kim WJ, Kim H, Ko JM, Kim KJ, Choi SA, Kim H, Hwang H, Choi JE, Cho A, Moon J, Seong MW, Park SS, et al. The Korean undiagnosed diseases program: lessons from a one-year pilot project. Orphanet Journal of Rare Diseases. 14: 68. PMID 30894207 DOI: 10.1186/s13023-019-1041-5  0.4
2019 Choi SA, Kim SY, Kim WJ, Shim YK, Kim H, Hwang H, Choi JE, Lim BC, Chae JH, Chong S, Lee JY, Phi JH, Kim SK, Wang KC, Kim KJ. Antiepileptic Drug Withdrawal after Surgery in Children with Focal Cortical Dysplasia: Seizure Recurrence and Its Predictors. Journal of Clinical Neurology (Seoul, Korea). 15: 84-89. PMID 30618221 DOI: 10.3988/jcn.2019.15.1.84  0.4
2018 Kim HT, Kim KJ. Evolution of six novel ORFs in the plastome of Mankyua chejuense and phylogeny of eusporangiate ferns. Scientific Reports. 8: 16466. PMID 30405200 DOI: 10.1038/s41598-018-34825-6  0.88
2018 Kim SY, Lee JS, Kim WJ, Kim H, Choi SA, Lim BC, Kim KJ, Chae JH. Paroxysmal Dyskinesia in Children: from Genes to the Clinic. Journal of Clinical Neurology (Seoul, Korea). PMID 30198221  0.4
2018 Kim S, Han J, Kim HA, Lim BC, Seo JE, Choi M, Kim KJ, Lee IG, Chae JH. Neuropathy, Ataxia, Retinitis Pigmentosa-like Phenotype Associated with a Mitochondrial Mutation in a Family. Annals of Clinical and Laboratory Science. 48: 546-548. PMID 30143501  0.4
2018 Lee JS, Hwang H, Kim SY, Kim KJ, Choi JS, Woo MJ, Choi YM, Jun JK, Lim BC, Chae JH. Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability. Annals of Laboratory Medicine. 38: 473-480. PMID 29797819 DOI: 10.3343/alm.2018.38.5.473  0.4
2018 Kim H, Kim SY, Lim BC, Hwang H, Chae JH, Choi J, Kim KJ, Dlugos DJ. Spike persistence and normalization in benign epilepsy with centrotemporal spikes - Implications for management. Brain & Development. PMID 29754875 DOI: 10.1016/j.braindev.2018.04.011  0.4
2018 Lee JS, Choi JM, Lee M, Kim SY, Lee S, Lim BC, Cheon JE, Kim IO, Kim KJ, Choi M, Seong MW, Chae JH. Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. Brain & Development. PMID 29439846 DOI: 10.1016/j.braindev.2018.01.009  0.4
2018 Kim H, Lee S, Choi M, Kim H, Hwang H, Choi J, Chae JH, Kim KJ, Lim BC. Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation. Brain & Development. PMID 29428275 DOI: 10.1016/j.braindev.2018.01.006  0.4
2018 Kim SY, Kim WJ, Kim H, Choi SA, Lee JS, Cho A, Jang SS, Lim BC, Kim KJ, Kim JI, Hahn SH, Chae JH. Collagen VI-related myopathy: Expanding the clinical and genetic spectrum. Muscle & Nerve. PMID 29406609 DOI: 10.1002/mus.26093  0.4
2017 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. Surgical outcome and predictive factors of epilepsy surgery in pediatric isolated focal cortical dysplasia. Epilepsy Research. 139: 54-59. PMID 29197666 DOI: 10.1016/j.eplepsyres.2017.11.012  0.4
2017 Yoo IH, Kim W, Kim H, Lim BC, Hwang H, Chae JH, Choi J, Kim KJ. Factors Associated with Favorable Outcome of Topiramate Migraine Prophylaxis in Pediatric Patients. Journal of Clinical Neurology (Seoul, Korea). 13: 281-286. PMID 28748680 DOI: 10.3988/jcn.2017.13.3.281  0.4
2016 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, et al. FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy. Epilepsy Research. 129: 118-124. PMID 28043061 DOI: 10.1016/j.eplepsyres.2016.11.022  0.4
2016 Lee JS, Lee S, Choi M, Lim BC, Choi J, Kim KJ, Cheon JE, Kim IO, Chae JH. eIF2B-related multisystem disorder in two sisters with atypical presentations. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. PMID 28041799 DOI: 10.1016/j.ejpn.2016.07.010  0.4
2016 Cho A, Seong MW, Lim BC, Lee HJ, Byeon JH, Kim SS, Kim SY, Choi SA, Wong AL, Lee J, Kim JS, Ryu HW, Lee JS, Kim H, Hwang H, ... ... Kim KJ, et al. Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. Muscle & Nerve. PMID 27593222 DOI: 10.1002/mus.25396  0.4
2016 Lee JS, Kim H, Lim BC, Hwang H, Choi J, Kim KJ, Hwang YS, Chae JH. Leigh Syndrome in Childhood: Neurologic Progression and Functional Outcome. Journal of Clinical Neurology (Seoul, Korea). 12: 181-187. PMID 27074294 DOI: 10.3988/jcn.2016.12.2.181  0.4
2015 Byun CK, Lee JS, Lim BC, Kim KJ, Hwang YS, Chae JH. FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome. Child Neurology Open. 2: 2329048X14568151. PMID 28503589 DOI: 10.1177/2329048X14568151  0.4
2015 Lee JS, Lee S, Lim BC, Kim KJ, Hwang YS, Choi M, Chae JH. Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation. Gene. PMID 25936994 DOI: 10.1016/j.gene.2015.04.075  0.4
2015 Yoo SK, Lim BC, Byeun J, Hwang H, Kim KJ, Hwang YS, Lee J, Park JS, Lee YS, Namkung J, Park J, Lee S, Shin JY, Seo JS, Kim JI, et al. Noninvasive prenatal diagnosis of duchenne muscular dystrophy: comprehensive genetic diagnosis in carrier, proband, and fetus. Clinical Chemistry. 61: 829-37. PMID 25847990 DOI: 10.1373/clinchem.2014.236380  0.36
2015 Lim BC, Hwang H, Kim H, Chae JH, Choi J, Kim KJ, Hwang YS, Yum MS, Ko TS. Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome? Epilepsy Research. 109: 34-9. PMID 25524840 DOI: 10.1016/j.eplepsyres.2014.10.008  0.36
2015 Lee JS, Byun CK, Kim H, Lim BC, Hwang H, Choi JE, Hwang YS, Seong MW, Park SS, Kim KJ, Chae JH. Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities. Brain & Development. 37: 402-8. PMID 25108505 DOI: 10.1016/j.braindev.2014.07.007  0.36
2015 Lee JS, Lim BC, Kim KJ, Hwang YS, Cheon JE, Kim IO, Seong MW, Park SS, Chae JH. Menkes disease in Korea: ATP7A mutation and epilepsy phenotype. Brain & Development. 37: 223-9. PMID 24882692 DOI: 10.1016/j.braindev.2014.04.012  0.36
2014 Kim SY, Choi SA, Ryu HW, Kim H, Lim BC, Hwang H, Chae JH, Choi J, Kim KJ, Hwang YS, Lee ST, Chu K, Lee SK. Screening Autoimmune Anti-neuronal Antibodies in Pediatric Patients with Suspected Autoimmune Encephalitis. Journal of Epilepsy Research. 4: 55-61. PMID 25625089  0.4
2014 Lee JS, Lim BC, Kim KJ, Hwang YS, Seong MW, Park SS, Park SH, Chae JH. Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis. Pediatrics International : Official Journal of the Japan Pediatric Society. 56: e88-91. PMID 25521991 DOI: 10.1111/ped.12442  0.4
2014 Lee JS, Lim BC, Chae JH, Hwang YS, Seong MW, Park SS, Kim KJ. Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy. Epileptic Disorders : International Epilepsy Journal With Videotape. 16: 449-55. PMID 25498131 DOI: 10.1684/epd.2014.0712  0.4
2014 Lee JY, Choi YH, Cheon JE, Paeng JC, Ryu HW, Kim KJ, Phi JH, Wang KC, Cho BK, Chae JH, Kim SK. Delayed posterior circulation insufficiency in pediatric moyamoya disease. Journal of Neurology. 261: 2305-13. PMID 25212285 DOI: 10.1007/s00415-014-7484-7  0.4
2014 Kim HT, Kim KJ. Chloroplast genome differences between Asian and American Equisetum arvense (Equisetaceae) and the origin of the hypervariable trnY-trnE intergenic spacer. Plos One. 9: e103898. PMID 25157804 DOI: 10.1371/journal.pone.0103898  0.88
2014 Chung MY, López-Pujol J, Chung JM, Kim KJ, Chung MG. Contrasting levels of clonal and within-population genetic diversity between the 2 ecologically different herbs Polygonatum stenophyllum and Polygonatum inflatum (Liliaceae). The Journal of Heredity. 105: 690-701. PMID 25124813 DOI: 10.1093/jhered/esu048  0.64
2014 Kim JS, Lee JH, Ryu HW, Lim BC, Hwang H, Chae JH, Choi J, Kim KJ, Hwang YS, Kim H. Effectiveness of intravenous levetiracetam as an adjunctive treatment in pediatric refractory status epilepticus. Pediatric Emergency Care. 30: 525-8. PMID 25062293 DOI: 10.1097/PEC.0000000000000183  0.4
2014 Lim BC, Yoo SK, Lee S, Shin JY, Hwang H, Chae JH, Hwang YS, Seo JS, Kim JI, Kim KJ. Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing. Gene. 546: 425-9. PMID 24914498 DOI: 10.1016/j.gene.2014.06.011  0.36
2014 Kim HT, Chung MG, Kim KJ. Chloroplast genome evolution in early diverged leptosporangiate ferns. Molecules and Cells. 37: 372-82. PMID 24823358 DOI: 10.14348/molcells.2014.2296  0.88
2014 Lawson JA, Chan CF, Chi CS, Fan PC, Kim HD, Kim KJ, Likasitwatanakul S, Ortiz M, Riney K, Tay SK, Tham CK. Managing tuberous sclerosis in the Asia-Pacific region: refining practice and the role of targeted therapy. Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia. 21: 1180-7. PMID 24518266 DOI: 10.1016/j.jocn.2013.06.029  0.36
2014 Lee JY, Kim SK, Wang KC, Chae JH, Cheon JE, Choi JW, Phi JH, Lim BC, Kim KJ, Kim IO, Hwang YS, Chung YS. Involuntary movement in pediatric moyamoya disease patients: consideration of pathogenetic mechanism using neuroimaging studies. Child's Nervous System : Chns : Official Journal of the International Society For Pediatric Neurosurgery. 30: 885-90. PMID 24337519 DOI: 10.1007/s00381-013-2339-6  0.4
2014 Kim SH, Lee JS, Lim BC, Kim KJ, Hwang YS, Park JD, Cheon JE, Kim IO, Kim BN, Chae JH. A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder. Brain & Development. 36: 734-7. PMID 24199608 DOI: 10.1016/j.braindev.2013.09.009  0.4
2014 Gardeitchik T, Mohamed M, Fischer B, Lammens M, Lefeber D, Lace B, Parker M, Kim KJ, Lim BC, Häberle J, Garavelli L, Jagadeesh S, Kariminejad A, Guerra D, Leão M, et al. Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. European Journal of Human Genetics : Ejhg. 22: 888-95. PMID 23963297 DOI: 10.1038/ejhg.2013.154  0.36
2014 Kim JS, Kim H, Lim BC, Chae JH, Choi J, Kim KJ, Hwang YS, Hwang H. Lacosamide as an adjunctive therapy in pediatric patients with refractory focal epilepsy. Brain & Development. 36: 510-5. PMID 23948372 DOI: 10.1016/j.braindev.2013.07.003  0.4
2014 Cho A, Chae JH, Kim HM, Lim BC, Hwang H, Hwang YS, Phi JH, Kim SK, Wang KC, Cho BK, Kim KJ. Electroencephalography in pediatric moyamoya disease: reappraisal of clinical value. Child's Nervous System : Chns : Official Journal of the International Society For Pediatric Neurosurgery. 30: 449-59. PMID 23943190 DOI: 10.1007/s00381-013-2215-4  0.36
2014 Lim BC, Min BJ, Park WY, Oh SK, Woo MJ, Choi JS, Kim KJ, Hwang YS, Chae JH. A unique phenotype of 2q24.3-2q32.1 duplication: early infantile epileptic encephalopathy without mesomelic dysplasia. Journal of Child Neurology. 29: 260-4. PMID 23456534 DOI: 10.1177/0883073813478659  0.4
2013 Kim DW, Lim BC, Kim KJ, Chae JH, Lee R, Lee SK. Low incidence of SCN1A genetic mutation in patients with hemiconvulsion-hemiplegia-epilepsy syndrome. Epilepsy Research. 106: 440-5. PMID 23916143 DOI: 10.1016/j.eplepsyres.2013.06.012  0.4
2013 Kim SH, Lee JH, Ryu HW, Lim BC, Chae JH, Choi JE, Hwang YS, Kim KJ. Short-term efficacy and tolerability of rufinamide adjunctive therapy in children with refractory generalised epilepsy. Epileptic Disorders : International Epilepsy Journal With Videotape. 15: 49-54. PMID 23531645 DOI: 10.1684/epd.2013.0557  0.4
2013 Kim H, Byun SH, Kim JS, Lim BC, Chae JH, Choi J, Kim KJ, Hwang YS, Hwang H. Clinical and EEG risk factors for subsequent epilepsy in patients with complex febrile seizures. Epilepsy Research. 105: 158-63. PMID 23507332 DOI: 10.1016/j.eplepsyres.2013.02.006  0.4
2013 Lim BC, Lee S, Shin JY, Hwang H, Kim KJ, Hwang YS, Seo JS, Kim JI, Chae JH. Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technology. Neuromuscular Disorders : Nmd. 23: 337-44. PMID 23453855 DOI: 10.1016/j.nmd.2013.01.007  0.36
2013 Ko JM, Lim BC, Kim KJ, Hwang YS, Ryu HW, Lee JH, Kim JS, Chae JH. Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation. Child's Nervous System : Chns : Official Journal of the International Society For Pediatric Neurosurgery. 29: 525-9. PMID 23400866 DOI: 10.1007/s00381-013-2047-2  0.4
2013 Kim H, Byun SH, Kim JS, Lim BC, Chae JH, Choi J, Kim KJ, Hwang YS, Hwang H. Comparison of flunarizine and topiramate for the prophylaxis of pediatric migraines. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 17: 45-9. PMID 23111149 DOI: 10.1016/j.ejpn.2012.10.001  0.4
2012 Kim JS, Park J, Min BJ, Oh SK, Choi JS, Woo MJ, Chae JH, Kim KJ, Hwang YS, Lim BC. A case of isodicentric chromosome 15 presented with epilepsy and developmental delay. Korean Journal of Pediatrics. 55: 487-90. PMID 23300505 DOI: 10.3345/kjp.2012.55.12.487  0.4
2012 Doo KH, Ryu HW, Kim SS, Lim BC, Hwang H, Kim KJ, Hwang YS, Chae JH. A case of Becker muscular dystrophy with early manifestation of cardiomyopathy. Korean Journal of Pediatrics. 55: 350-3. PMID 23049593 DOI: 10.3345/kjp.2012.55.9.350  0.4
2012 Koo YS, Yang KS, Seok HY, Lee SK, Lee IK, Cho YW, Lee JH, Hwang H, Kim KJ, Jung KY. Characteristics of patients with epilepsy who use a website providing healthcare information about epilepsy in South Korea. Epilepsy & Behavior : E&B. 25: 156-61. PMID 23032122 DOI: 10.1016/j.yebeh.2012.06.002  0.4
2012 Kim H, Lim BC, Jeong W, Kim JS, Chae JH, Kim KJ, Chung CK, Hwang YS, Hwang H. Magnetoencephalography in pediatric lesional epilepsy surgery. Journal of Korean Medical Science. 27: 668-73. PMID 22690099 DOI: 10.3346/jkms.2012.27.6.668  0.4
2012 Kim SH, Chung HR, Kim SH, Kim H, Lim BC, Chae JH, Kim KJ, Hwang YS, Hwang H. Subclinical hypothyroidism during valproic acid therapy in children and adolescents with epilepsy. Neuropediatrics. 43: 135-9. PMID 22618302 DOI: 10.1055/s-0032-1313913  0.36
2012 Kim SH, Kim H, Lim BC, Chae JH, Kim KJ, Hwang YS, Hwang H. Paroxysmal nonepileptic events in pediatric patients confirmed by long-term video-EEG monitoring--Single tertiary center review of 143 patients. Epilepsy & Behavior : E&B. 24: 336-40. PMID 22579031 DOI: 10.1016/j.yebeh.2012.03.022  0.4
2012 Chung MY, López-Pujol J, Maki M, Kim KJ, Chung JM, Sun BY, Chung MG. Genetic diversity in the common terrestrial orchid Oreorchis patens and its rare congener Oreorchis coreana: inference of species evolutionary history and implications for conservation. The Journal of Heredity. 103: 692-702. PMID 22563130 DOI: 10.1093/jhered/ess032  0.64
2012 Eun SH, Eun BL, Lee JS, Hwang YS, Kim KJ, Lee YM, Lee IG, Lee M, Ko TS, Kim JT, Eom S, Kim HD. Effects of lamotrigine on cognition and behavior compared to carbamazepine as monotherapy for children with partial epilepsy. Brain & Development. 34: 818-23. PMID 22521904 DOI: 10.1016/j.braindev.2012.03.006  0.36
2012 Kim H, Lee JH, Ryu HW, Lim BC, Chae JH, Choi J, Kim KJ, Hwang YS, Hwang H. Coexisting seizures in patients with infantile spasms confirmed by long-term video-electroencephalography monitoring. Epilepsy Research. 101: 70-5. PMID 22459640 DOI: 10.1016/j.eplepsyres.2012.03.003  0.4
2012 Cho A, Kim SJ, Lim BC, Hwang H, Park JD, Kim GB, Jin DK, Lee J, Ki CS, Kim KJ, Hwang YS, Chae JH. Infantile Pompe disease: clinical and genetic characteristics with an experience of enzyme replacement therapy. Journal of Child Neurology. 27: 319-24. PMID 21940687 DOI: 10.1177/0883073811420295  0.4
2012 Hwang H, Kim H, Kim SH, Kim SH, Lim BC, Chae JH, Choi JE, Kim KJ, Hwang YS. Long-term effectiveness of ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy. Brain & Development. 34: 344-8. PMID 21893390 DOI: 10.1016/j.braindev.2011.08.007  0.4
2011 Jeong GU, Kim H, Lim BC, Chae JH, Kim KJ, Hwang YS, Hwang H. Predictive value of electroencephalography for seizure outcome following corpus callosotomy in children. Journal of Epilepsy Research. 1: 65-70. PMID 24649448 DOI: 10.14581/jer.11012  0.4
2011 Lim BC, Lee S, Shin JY, Kim JI, Hwang H, Kim KJ, Hwang YS, Seo JS, Chae JH. Genetic diagnosis of duchenne and becker muscular dystrophy using next-generation sequencing technology: Comprehensive mutational search in a single platform Journal of Medical Genetics. 48: 731-736. PMID 21969337 DOI: 10.1136/jmedgenet-2011-100133  0.36
2011 Lim BC, Hwang H, Chae JH, Choi JE, Hwang YS, Kang SH, Ki CS, Kim KJ. SCN1A mutational analysis in Korean patients with Dravet syndrome. Seizure. 20: 789-94. PMID 21868258 DOI: 10.1016/j.seizure.2011.08.002  0.4
2011 Lim BC, Park WY, Seo EJ, Kim KJ, Hwang YS, Chae JH. De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay. Journal of Child Neurology. 26: 615-8. PMID 21471554 DOI: 10.1177/0883073810384996  0.4
2011 Lim BC, Hwang H, Kim KJ, Hwang YS, Cheon JE, Kim IO, Kim HJ, Chae JH. Relapsing demyelinating CNS disease in a Korean pediatric population: multiple sclerosis versus neuromyelitis optica. Multiple Sclerosis (Houndmills, Basingstoke, England). 17: 67-73. PMID 20858690 DOI: 10.1177/1352458510382685  0.4
2010 Kim SH, Lim BC, Chae JH, Kim KJ, Hwang YS. A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation. Korean Journal of Pediatrics. 53: 718-21. PMID 21189944 DOI: 10.3345/kjp.2010.53.6.718  0.4
2010 Lim BC, Ki CS, Kim JW, Cho A, Kim MJ, Hwang H, Kim KJ, Hwang YS, Park WY, Lim YJ, Kim IO, Lee JS, Chae JH. Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea. Neuromuscular Disorders : Nmd. 20: 524-30. PMID 20620061 DOI: 10.1016/j.nmd.2010.06.005  0.4
2010 Kim SK, Cho BK, Phi JH, Lee JY, Chae JH, Kim KJ, Hwang YS, Kim IO, Lee DS, Lee J, Wang KC. Pediatric moyamoya disease: An analysis of 410 consecutive cases. Annals of Neurology. 68: 92-101. PMID 20582955 DOI: 10.1002/ana.21981  0.4
2010 Park JD, Lim B, Kim KJ, Hwang YS, Kim SK, Kang SH, Cho SI, Park SS, Lee JS, Chae JH. Glutaric aciduria type 1 in Korea: report of two novel mutations. Journal of Korean Medical Science. 25: 957-60. PMID 20514322 DOI: 10.3346/jkms.2010.25.6.957  0.4
2010 Kim H, Cho A, Lim BC, Kim MJ, Kim KJ, Nishino I, Hwang YS, Chae JH. A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease. Muscle & Nerve. 41: 879-82. PMID 20513107 DOI: 10.1002/mus.21614  0.4
2010 Lim BC, Kim GB, Bae EJ, Noh CI, Hwang H, Kim KJ, Hwang YS, Ko TS, Chae JH. Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue. Journal of Child Neurology. 25: 490-3. PMID 20382953 DOI: 10.1177/0883073809357937  0.4
2010 Chae JH, Lim BC, Cheong HI, Hwang YS, Kim KJ, Hwang H. A single large-scale deletion of mtDNA in a child with recurrent encephalopathy and tubulopathy. Journal of the Neurological Sciences. 292: 104-6. PMID 20226471 DOI: 10.1016/j.jns.2010.02.006  0.4
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