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SYNGAP1‐related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63606
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- Publication type:
- Article
Characterizing Families of Pediatric Patients with Rare Diseases and Their Diagnostic Odysseys: A Comprehensive Survey Analysis from a Single Tertiary Center in Korea.
- Published in:
- Annals of Child Neurology, 2024, v. 32, n. 3, p. 167, doi. 10.26815/acn.2024.00472
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- Publication type:
- Article
Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea.
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- Diabetes & Metabolism Journal, 2024, v. 48, n. 3, p. 482, doi. 10.4093/dmj.2023.0078
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- Publication type:
- 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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- Publication type:
- Article
Expanding association between BICD2 variants and brain malformations and associated lissencephaly.
- Published in:
- Clinical & Experimental Pediatrics, 2024, v. 67, n. 1, p. 54, doi. 10.3345/cep.2023.01095
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- Publication type:
- Article
Interaction of interictal epileptiform activity with sleep spindles is associated with cognitive deficits and adverse surgical outcome in pediatric focal epilepsy.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 1, p. 190, doi. 10.1111/epi.17810
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- Publication type:
- 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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- Publication type:
- Article
Impact of nusinersen on the health‐related quality of life and caregiver burden of patients with spinal muscular atrophy with symptom onset after age 6 months.
- Published in:
- Muscle & Nerve, 2023, v. 68, n. 4, p. 404, doi. 10.1002/mus.27950
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- Publication type:
- Article
Expansion of clinico-genetic spectrum of PRDX3 disease: a literature review with two additional cases.
- Published in:
- Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad233
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- Publication type:
- Article
Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1218706
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- Publication type:
- Article
Outcomes of the second withdrawal of anti‐seizure medication in patients with pediatric‐onset epilepsy.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 6, p. e93, doi. 10.1111/epi.17594
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- Publication type:
- Article
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
- Published in:
- Annals of Laboratory Medicine, 2023, v. 43, n. 3, p. 280, doi. 10.3343/alm.2023.43.3.280
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- Publication type:
- Article
Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement.
- Published in:
- Clinical & Experimental Pediatrics, 2023, v. 66, n. 3, p. 142, doi. 10.3345/cep.2022.01144
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- Publication type:
- Article
Generalized Tonic-Clonic Seizures after Self-Limited Epilepsy with Centrotemporal Spikes: A Case Series.
- Published in:
- Annals of Child Neurology, 2022, v. 30, n. 4, p. 173, doi. 10.26815/acn.2022.00115
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- Publication type:
- Article
Corrigendum: Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Fatal systemic disorder caused by biallelic variants in FARSA.
- Published in:
- 2022
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- Publication type:
- journal article
Clinico‐radiological characteristics of anti‐myelin oligodendrocyte glycoprotein antibody‐associated autoimmune encephalitis in children.
- Published in:
- Developmental Medicine & Child Neurology, 2022, v. 64, n. 8, p. 998, doi. 10.1111/dmcn.15174
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- Publication type:
- Article
Whole genomic approach in mutation discovery of infantile spasms patients.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.944905
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- Publication type:
- Article
Expanding the Clinical and Genetic Spectrum of Caveolinopathy in Korea.
- Published in:
- Annals of Child Neurology, 2022, v. 30, n. 3, p. 95, doi. 10.26815/acn.2022.00136
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- Publication type:
- Article
Variable Phenotypes of ZC4H2-Associated Rare Disease in Six Patients.
- Published in:
- Annals of Child Neurology, 2022, v. 30, n. 3, p. 120, doi. 10.26815/acn.2022.00129
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- Publication type:
- Article
Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy.
- Published in:
- Annals of Child Neurology, 2022, v. 30, n. 3, p. 127, doi. 10.26815/acn.2022.00171
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- Publication type:
- Article
Generation of a Dystrophin Mutant in Dog by Nuclear Transfer Using CRISPR/Cas9-Mediated Somatic Cells: A Preliminary Study.
- Published in:
- 2022
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- Publication type:
- Case Study
Neonatal-Onset PIGT Encephalopathy: A Rare Korean Case with Hypophosphatasia.
- Published in:
- 2022
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- Publication type:
- Letter to the Editor
Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 1, p. 79, doi. 10.3343/alm.2022.42.1.79
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- Publication type:
- Article
A brain extraction algorithm for infant T2 weighted magnetic resonance images based on fuzzy c-means thresholding.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-02722-0
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- Publication type:
- Article
Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia.
- Published in:
- Annals of Neurology, 2021, v. 90, n. 5, p. 738, doi. 10.1002/ana.26228
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- Publication type:
- Article
Heterogeneous Clinical Characteristics of Allan-Herndon-Dudley Syndrome with SLC16A2 Mutations.
- Published in:
- Annals of Child Neurology, 2021, v. 29, n. 4, p. 149, doi. 10.26815/acn.2021.00423
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- Publication type:
- Article
Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1791
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- Publication type:
- Article
Sequencing cell-free fetal DNA in pregnant women with GCK-MODY: a proof-of-concept study.
- Published in:
- 2021
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- Publication type:
- journal article
Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1677
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- Publication type:
- Article
Multilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome.
- Published in:
- Pediatric Allergy, Immunology & Pulmonology, 2021, v. 34, n. 2, p. 83, doi. 10.1089/ped.2021.0029
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- Publication type:
- Article
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22627-w
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- Publication type:
- Article
Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene.
- Published in:
- Experimental Dermatology, 2021, v. 30, n. 5, p. 676, doi. 10.1111/exd.14313
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- Publication type:
- Article
Clinical and Genetic Spectrum of STXBP1 Encephalopathy in the Korean Pediatric Population.
- Published in:
- Annals of Child Neurology, 2021, v. 29, n. 2, p. 68, doi. 10.26815/acn.2020.00304
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- Publication type:
- Article
Genetic diagnosis of infantile‐onset epilepsy in the clinic: Application of whole‐exome sequencing following epilepsy gene panel testing.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 3, p. 418, doi. 10.1111/cge.13903
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- Publication type:
- Article
Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis.
- Published in:
- 2020
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- Publication type:
- journal article
Pediatric Miller Fisher Syndrome; Characteristic Presentation and Comparison with Adult Miller Fisher Syndrome.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 12, p. 3930, doi. 10.3390/jcm9123930
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- Publication type:
- Article
Deep Phenotyping in 1p36 Deletion Syndrome.
- Published in:
- Annals of Child Neurology, 2020, v. 28, n. 4, p. 131, doi. 10.26815/acn.2020.00108
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- Publication type:
- Article
Biallelic mutations in ABCB1 display recurrent reversible encephalopathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 8, p. 1443, doi. 10.1002/acn3.51125
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- Publication type:
- Article
Short Course and Early Switch of Vigabatrin for Infantile spasms.
- Published in:
- Annals of Child Neurology, 2020, v. 28, n. 3, p. 88, doi. 10.26815/acn.2020.00059
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- Publication type:
- Article
Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 586, doi. 10.1111/cge.13713
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- Publication type:
- Article
Serum α-synuclein and IL-1β are increased and correlated with measures of disease severity in children with epilepsy: potential prognostic biomarkers?
- Published in:
- 2020
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- Publication type:
- journal article
Pediatric brain extraction from T2‐weighted MR images using 3D dual frame U‐net and human connectome database.
- Published in:
- International Journal of Imaging Systems & Technology, 2019, v. 29, n. 4, p. 476, doi. 10.1002/ima.22325
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- Publication type:
- Article
Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance.
- Published in:
- 2019
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- Publication type:
- journal article
Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features.
- Published in:
- Yonsei Medical Journal, 2019, v. 60, n. 12, p. 1209, doi. 10.3349/ymj.2019.60.12.1209
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- Publication type:
- Article
Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.
- Published in:
- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00988
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- Publication type:
- Article
Satellite lesions of DNET: implications for seizure and tumor control after resection.
- Published in:
- Journal of Neuro-Oncology, 2019, v. 143, n. 3, p. 437, doi. 10.1007/s11060-019-03174-3
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- Publication type:
- Article
1387-P: Genotyping Cell-Free Fetal DNA to Decide whether to Treat Hyperglycemia during Pregnancy in Women with GCK Monogenic Diabetes—A Case Study.
- Published in:
- Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-1387-P
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- Publication type:
- Article
Novel and Private EDA Mutations and Clinical Phenotypes of Korean Patients with X-Linked Hypohidrotic Ectodermal Dysplasia.
- Published in:
- Cytogenetic & Genome Research, 2019, v. 157, n. 4, p. 1, doi. 10.1159/000500214
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- Publication type:
- Article
Case study of an inborn error manifested in the elderly: A woman with adult‐onset mitochondrial disease mimicking systemic vasculitis.
- Published in:
- 2019
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- Publication type:
- Case Study