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Sequencing cell-free fetal DNA in pregnant women with GCK-MODY: a proof-of-concept study.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Collagen VI-related myopathy: Expanding the clinical and genetic spectrum.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Severe Lactic Acidosis Associated with Linezolid Use in a Patient with the Mitochondrial DNA A2706G Polymorphism.
- Published in:
- Pharmacotherapy, 2007, v. 27, n. 5, p. 771, doi. 10.1592/phco.27.5.771
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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 and Genetic Spectrum of Tubulinopathy: A Single-Center Study.
- Published in:
- Annals of Child Neurology, 2024, v. 32, n. 2, p. 115, doi. 10.26815/acn.2024.00423
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- Publication type:
- Article
Congenital thrombotic thrombocytopenic purpura associated with unilateral moyamoya disease.
- Published in:
- 2008
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- Publication type:
- Report
Pediatric Stroke.
- Published in:
- Journal of Korean Neurosurgical Society, 2015, v. 57, n. 6, p. 396, doi. 10.3340/jkns.2015.57.6.396
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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
Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Pediatric moyamoya disease: An analysis of 410 consecutive cases.
- Published in:
- Annals of Neurology, 2010, v. 68, n. 1, p. 92, doi. 10.1002/ana.21981
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- Publication type:
- Article
Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.
- Published in:
- Pediatrics International, 2014, v. 56, n. 6, p. e88, doi. 10.1111/ped.12442
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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
Cover Image, Volume 38, Issue 9.
- Published in:
- Prenatal Diagnosis, 2018, v. 38, n. 11, p. i, doi. 10.1002/pd.5360
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- Publication type:
- Article
Development of a common platform for the noninvasive prenatal diagnosis of X-linked diseases.
- Published in:
- 2018
- By:
- Publication type:
- journal 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
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
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
Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.
- Published in:
- Annals of Laboratory Medicine, 2018, v. 38, n. 5, p. 473, doi. 10.3343/alm.2018.38.5.473
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- Publication type:
- 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.
- Published in:
- Annals of Laboratory Medicine, 2017, v. 37, n. 6, p. 516, doi. 10.3343/alm.2017.37.6.516
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- Publication type:
- Article
Hereditary glomerulopathy associated with a mitochondrial tRNA<sup>Leu</sup> gene mutation.
- Published in:
- Pediatric Nephrology, 1999, v. 13, n. 6, p. 477, doi. 10.1007/s004670050641
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- Publication type:
- Article
Relapsing demyelinating CNS disease in a Korean pediatric population: Multiple sclerosis versus neuromyelitis optica.
- Published in:
- Multiple Sclerosis Journal, 2011, v. 17, n. 1, p. 67, doi. 10.1177/1352458510382685
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- Publication type:
- 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
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
- By:
- 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
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
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
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
The Korean undiagnosed diseases program: lessons from a one-year pilot project.
- Published in:
- 2019
- By:
- Publication type:
- journal article
A 3‐Month‐Old Boy With Progressive Weakness.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
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
- By:
- Publication type:
- journal 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
Letter to the Editor: Neuropathy, Ataxia, Retinitis Pigmentosa-like Phenotype Associated with a Mitochondrial G8363A Mutation in a Family.
- Published in:
- Annals of Clinical & Laboratory Science, 2018, v. 48, n. 4, p. 546
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- Publication type:
- 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
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
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
Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea.
- Published in:
- Diabetes & Metabolism Journal, 2024, v. 48, n. 3, p. 482, doi. 10.4093/dmj.2023.0078
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- Publication type:
- Article
An adolescent with laminopathy presenting as ventricular tachycardia and left ventricular apical aneurysm.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Home Mechanical Ventilation in Childhood-Onset Hereditary Neuromuscular Diseases: 13 Years’ Experience at a Single Center in Korea.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0122346
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- Publication type:
- Article
Fatal systemic disorder caused by biallelic variants in FARSA.
- Published in:
- 2022
- By:
- Publication type:
- journal 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
- By:
- Publication type:
- Article
Electroencephalography in pediatric moyamoya disease: reappraisal of clinical value.
- Published in:
- Child's Nervous System, 2014, v. 30, n. 3, p. 449, doi. 10.1007/s00381-013-2215-4
- By:
- Publication type:
- Article
Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation.
- Published in:
- Child's Nervous System, 2013, v. 29, n. 4, p. 525, doi. 10.1007/s00381-013-2047-2
- By:
- Publication type:
- Article
Cervical spondylotic myelopathy caused by violent motor tics in a child with Tourette syndrome.
- Published in:
- Child's Nervous System, 2013, v. 29, n. 2, p. 317, doi. 10.1007/s00381-012-1939-x
- By:
- Publication type:
- Article
Congenital subependymal giant cell astrocytoma: clinical considerations and expression of radial glial cell markers in giant cells.
- Published in:
- Child's Nervous System, 2008, v. 24, n. 12, p. 1499, doi. 10.1007/s00381-008-0681-x
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Corrigendum: Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
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
- By:
- 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
- By:
- Publication type:
- Article