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Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG
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Characterization of Neonatal Seizures in a Large Well-defined Multicenter Cohort of a Tertiary Neonatology Center in Germany
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Does Motor Function Differ According to the Site of Mutation in Duchenne Muscular Dystrophy?
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Nerve Ultrasound in Pediatric Polyneuropathies: A Systematic Review
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Function Matters: Variant Mechanisms in the Era of Precision Medicine
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Genetic Variants and Disease Mechanisms: Lessons from Monogenic Childhood Epilepsies
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Prenatal Diagnosis of VLDLR-associated Cerebellar Hypoplasia via Fetal MRI
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One Size Doesn't Fit All: Four Score in the Pediatric ICU
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Focal Cortical Dysplasia Type IIa and SCN5A-associated Genetic Arrhythmia: A Case Report
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Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes
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Compulsive Respiratory Stereotypies in a Patient with SYNGAP1 Mutation
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Association Between Head Circumference Growth and Peripheral Nerve Cross-Sectional Area Growth in Infants: A Potential Future Biomarker for Central and Peripheral Nerve Maturation
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Novel Pathogenic GCH1 Variant in Familial DOPA-Responsive Dystonia
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Reply to Letter to the Editor: One Size Doesn't Fit All: Four Score in the Pediatric ICU
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Utility and Prognostic Implications of Continuous Electroencephalogram Monitoring in Pediatric Intensive Care
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Association Between Rapid Progression, Early Mortality, and Imaging in Neonatal-Onset Alexander Disease
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Exploring Molecular Pathways Underlying Epilepsy Development in Intellectual Disability
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Evaluation of an Online Patient Education Program for Children and Young People with ME/CFS and their Parents within the BAYNET FOR MECFS Study
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Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate
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Excessive Laughter in RHOBTB2-Related Neurodevelopmental Disorder
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Brain Magnetic Resonance Imaging of Neonatal Hypoglycemia: Assessing Injury Extent and Potential Cause
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Assessment and Prognostic Resources for Gross Motor Development in a Child with Cerebral Palsy Related to Congenital Zika Syndrome
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Assessing the Quality of Life in Hydrocephalic Children: A Study from Tertiary Care Hospitals in Pakistan
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Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients
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Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy: Real-World Experience from a Single Center
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The Role of Electroencephalography in Children with Acute Altered Mental Status of Unknown Etiology: A Prospective Study
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Epilepsy Surgery: Bridging the Gap with Minimally Invasive Techniques
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Precision Medicine in Angelman Syndrome
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Frequent Unrecognized Vertebral Fractures Associated with Increased Body Fat Mass in Children and Adolescents with Duchenne Muscular Dystrophy
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Phenotype and Genotype of Children with ALS2 gene-Related Disorder
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