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논문/저서

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학술지 제목
neuromuscular disorder Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants
Journal of genetic medicine Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14
Annals of child neurolog Clinical Characteristics of Epilepsy and Its Risk Factors in Neurofibromatosis Type 1: A Single-Center Study
Clin Exp Pediatr Advanced neuroimaging techniques for evaluating pediatric epilepsy
J Neurol Neurosurg Psychiatry Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions
Ann Indian Acad Neurol Clinical Experience of Nusinersen in a Broad Spectrum of Spinal Muscular Atrophy: A Retrospective Study
Brain Dev Central nervous system vasculitis from Epstein-Barr virus-associated T/natural killer-cell lymphoproliferative disorder in children: A case report
Neuropediatrics Extremely Early Onset Transthyretin Familial Amyloid Polyneuropathy with a Leu55Pro Mutation: A Pediatric Case Report and Literature Review
Journal of clinical neurology (Seoul, Korea). Long-term outcomes of hemispheric disconnection in pediatric patients with intractable epilepsy.
Pediatric transplantation. Risk factors for neurological complications and their correlation with survival following pediatric liver transplantation.
Pediatric neurology. A Rare Case of Childhood Stiff Person Syndrome Associated With Pleuropulmonary Blastoma.
Journal of clinical neurology (Seoul, Korea). Epilepsy and Other Neuropsychiatric Manifestations in Children and Adolescents with 22q11.2 Deletion Syndrome
Seizure. Structural abnormalities in benign childhood epilepsy with centrotemporal spikes (BCECTS).
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. An interictal EEG can predict the outcome of vagus nerve stimulation therapy for children with intractable epilepsy
Brain Dev. Familial acute necrotizing encephalopathy with RANBP2 mutation: The first report in Northeast Asia.
J Korean Med Sci. Clinical Characteristics of Transplant-associated Encephalopathy in Children.
Korean journal of pediatrics. Intravenous levetiracetam versus phenobarbital in children with status epilepticus or acute repetitive seizures.
Neuroimage Clin. Large-scale structural alteration of brain in epileptic children with SCN1A mutation.
Seizure. Diagnostic usefulness of arterial spin labeling in MR negative children with new onset seizures.
대한의학유전학회지 A novel GLA mutation in a Korean boy with an early cardiac manifestation of Fabry disease
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