Works by Lim, Byung Chan
Results: 68
Risk of central nervous system demyelinating attack or optic neuritis recurrence after pediatric optic neuritis in Korea.
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- Neurological Sciences, 2024, v. 45, n. 3, p. 1173, doi. 10.1007/s10072-023-07125-9
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- Article
SYNGAP1‐related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63606
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- Article
Pediatric Miller Fisher Syndrome; Characteristic Presentation and Comparison with Adult Miller Fisher Syndrome.
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- Journal of Clinical Medicine, 2020, v. 9, n. 12, p. 3930, doi. 10.3390/jcm9123930
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- Article
A Case of Multiple Mitochondrial Dysfunctions Syndrome 4 with Novel ISCA2 Variants, Mimicking Post-Infectious Encephalitis.
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- Child Neurology Open, 2023, p. 1, doi. 10.1177/2329048X231210421
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- Article
Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1791
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- Article
Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1677
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- Article
Use and Safety of Immunotherapeutic Management of N-Methyl-d-Aspartate Receptor Antibody Encephalitis: A Meta-analysis.
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- JAMA Neurology, 2021, v. 78, n. 11, p. 1333, doi. 10.1001/jamaneurol.2021.3188
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- Article
Aquaporin-4 autoimmunity masquerading as a brainstem tumor Case report.
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- Journal of Neurosurgery, 2014, p. 301, doi. 10.3171/2014.6.PEDS13674
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- Article
A 3‐Month‐Old Boy With Progressive Weakness.
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- 2018
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- Case Study
Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.
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- Pediatrics International, 2014, v. 56, n. 6, p. e88, doi. 10.1111/ped.12442
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- Article
Pediatric Stroke.
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- Journal of Korean Neurosurgical Society, 2015, v. 57, n. 6, p. 396, doi. 10.3340/jkns.2015.57.6.396
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- Article
Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.
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- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00988
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- Article
Home Mechanical Ventilation in Childhood-Onset Hereditary Neuromuscular Diseases: 13 Years’ Experience at a Single Center in Korea.
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- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0122346
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- Article
Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance.
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- 2019
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- journal article
Collagen VI-related myopathy: Expanding the clinical and genetic spectrum.
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- 2018
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- journal article
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
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- 2017
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- journal article
A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with danon disease.
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- Muscle & Nerve, 2010, v. 41, n. 6, p. 879, doi. 10.1002/mus.21614
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- Article
Development of the clinical assessment scale in autoimmune encephalitis.
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- 2019
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- journal article
Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort.
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- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1218706
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- Article
Whole genomic approach in mutation discovery of infantile spasms patients.
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- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.944905
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- Article
Genetic diagnosis of infantile‐onset epilepsy in the clinic: Application of whole‐exome sequencing following epilepsy gene panel testing.
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- Clinical Genetics, 2021, v. 99, n. 3, p. 418, doi. 10.1111/cge.13903
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- Article
Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
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- Clinical Genetics, 2020, v. 97, n. 4, p. 586, doi. 10.1111/cge.13713
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- Article
Satellite lesions of DNET: implications for seizure and tumor control after resection.
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- Journal of Neuro-Oncology, 2019, v. 143, n. 3, p. 437, doi. 10.1007/s11060-019-03174-3
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- Article
Increased expression of l-amino acid transporters in balloon cells of tuberous sclerosis.
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- Child's Nervous System, 2011, v. 27, n. 1, p. 63, doi. 10.1007/s00381-010-1239-2
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- Article
Clinical and Genetic Spectrum of Tubulinopathy: A Single-Center Study.
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- Annals of Child Neurology, 2024, v. 32, n. 2, p. 115, doi. 10.26815/acn.2024.00423
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- Article
Corrigendum: Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy.
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- 2022
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- Correction Notice
Generalized Tonic-Clonic Seizures after Self-Limited Epilepsy with Centrotemporal Spikes: A Case Series.
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- Annals of Child Neurology, 2022, v. 30, n. 4, p. 173, doi. 10.26815/acn.2022.00115
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- Article
Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy.
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- Annals of Child Neurology, 2022, v. 30, n. 3, p. 127, doi. 10.26815/acn.2022.00171
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- Article
Expanding the Clinical and Genetic Spectrum of Caveolinopathy in Korea.
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- Annals of Child Neurology, 2022, v. 30, n. 3, p. 95, doi. 10.26815/acn.2022.00136
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- Article
Variable Phenotypes of ZC4H2-Associated Rare Disease in Six Patients.
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- Annals of Child Neurology, 2022, v. 30, n. 3, p. 120, doi. 10.26815/acn.2022.00129
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- Article
Heterogeneous Clinical Characteristics of Allan-Herndon-Dudley Syndrome with SLC16A2 Mutations.
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- Annals of Child Neurology, 2021, v. 29, n. 4, p. 149, doi. 10.26815/acn.2021.00423
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- Article
Clinical and Genetic Spectrum of STXBP1 Encephalopathy in the Korean Pediatric Population.
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- Annals of Child Neurology, 2021, v. 29, n. 2, p. 68, doi. 10.26815/acn.2020.00304
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- Article
Deep Phenotyping in 1p36 Deletion Syndrome.
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- Annals of Child Neurology, 2020, v. 28, n. 4, p. 131, doi. 10.26815/acn.2020.00108
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- Article
Short Course and Early Switch of Vigabatrin for Infantile spasms.
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- Annals of Child Neurology, 2020, v. 28, n. 3, p. 88, doi. 10.26815/acn.2020.00059
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- Article
Broadening the scope of multigene panel analysis for adult epilepsy patients.
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- Epilepsia Open, 2024, v. 9, n. 4, p. 1538, doi. 10.1002/epi4.12993
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- Article
PRRT2‐positive self‐limited infantile epilepsy: Initial seizure characteristics and response to sodium channel blockers.
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- Epilepsia Open, 2023, v. 8, n. 2, p. 436, doi. 10.1002/epi4.12708
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- Article
Epilepsy Therapy Goes Viral.
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- Epilepsy Currents, 2019, v. 19, n. 5, p. 328, doi. 10.1177/1535759719870506
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- Article
Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis.
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- 2020
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- Publication type:
- journal article
Cover Image, Volume 38, Issue 9.
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- Prenatal Diagnosis, 2018, v. 38, n. 11, p. i, doi. 10.1002/pd.5360
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- Article
Development of a common platform for the noninvasive prenatal diagnosis of X-linked diseases.
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- 2018
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- journal article
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.990015
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- Article
Letter to the Editor: Neuropathy, Ataxia, Retinitis Pigmentosa-like Phenotype Associated with a Mitochondrial G8363A Mutation in a Family.
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- Annals of Clinical & Laboratory Science, 2018, v. 48, n. 4, p. 546
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- Article
First Korean Patients with Craniofrontonasal Syndrome Confirmed by EFNB1 Analysis.
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- Annals of Clinical & Laboratory Science, 2016, v. 46, n. 5, p. 544
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- Article
The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure.
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- 2022
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- journal article
Fatal systemic disorder caused by biallelic variants in FARSA.
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- 2022
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- journal article
Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement.
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- Clinical & Experimental Pediatrics, 2023, v. 66, n. 3, p. 142, doi. 10.3345/cep.2022.01144
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- Article
Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.
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- Annals of Laboratory Medicine, 2018, v. 38, n. 5, p. 473, doi. 10.3343/alm.2018.38.5.473
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- Article
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.
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- Annals of Laboratory Medicine, 2017, v. 37, n. 6, p. 516, doi. 10.3343/alm.2017.37.6.516
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- Article
Relapsing demyelinating CNS disease in a Korean pediatric population: Multiple sclerosis versus neuromyelitis optica.
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- Multiple Sclerosis Journal, 2011, v. 17, n. 1, p. 67, doi. 10.1177/1352458510382685
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- Article
Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features.
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- Yonsei Medical Journal, 2019, v. 60, n. 12, p. 1209, doi. 10.3349/ymj.2019.60.12.1209
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- Article