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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
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
- By:
- 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
- By:
- Publication type:
- Correction Notice
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
- By:
- 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
- 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
Neonatal-Onset PIGT Encephalopathy: A Rare Korean Case with Hypophosphatasia.
- Published in:
- 2022
- By:
- Publication type:
- Letter to the Editor
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
- By:
- 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
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
- By:
- 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
- By:
- 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
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
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
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
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
- Published in:
- Journal of Child Neurology, 2017, v. 32, n. 2, p. 237, doi. 10.1177/0883073816674095
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- Publication type:
- Article
Hemifacial Seizure of Cerebellar Ganglioglioma Origin: Seizure Control by Tumor Resection.
- Published in:
- Epilepsia (Series 4), 2001, v. 42, n. 9, p. 1204, doi. 10.1046/j.1528-1157.2001.43398.x
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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
- By:
- Publication type:
- Case Study
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
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
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
- By:
- Publication type:
- Article
A Case of Multiple Mitochondrial Dysfunctions Syndrome 4 with Novel ISCA2 Variants, Mimicking Post-Infectious Encephalitis.
- Published in:
- Child Neurology Open, 2023, p. 1, doi. 10.1177/2329048X231210421
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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
- By:
- 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
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
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
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
Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3023, doi. 10.1002/ajmg.a.37846
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- Publication type:
- Article
GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2200, doi. 10.1002/ajmg.a.37773
- By:
- Publication type:
- Article
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1501, doi. 10.1002/ajmg.a.37029
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- Publication type:
- Article
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 795, doi. 10.1002/ajmg.a.35268
- By:
- 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
- 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
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
- Published in:
- Scientific Reports, 2015, p. 17154, doi. 10.1038/srep17154
- By:
- 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
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
The Korean undiagnosed diseases program: lessons from a one-year pilot project.
- Published in:
- 2019
- By:
- Publication type:
- journal article
A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with danon disease.
- Published in:
- Muscle & Nerve, 2010, v. 41, n. 6, p. 879, doi. 10.1002/mus.21614
- 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
- By:
- Publication type:
- Article