Neuroimaging Features of Biotinidase Deficiency
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Spinal Muscular Atrophy
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Neurodegeneration with Brain Iron Accumulation
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A Child with Arthrogryposis
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A Child with Delayed Motor Milestones and Ptosis
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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The Infant or Young Child with Developmental Delay
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Molecular Genetic Advances in Fragile X Syndrome
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Value of Cranial Untrasound and MRI in Predicting Neurodevelopmental Outcome in Preterm Infants
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Hunter Disease (Mucopolysaccharidosis Type II) in a Karyotypically Normal Girl
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Clinical Findings in Four Children with Biotinidase Deficiency Detected Through a Statewide Neonatal Screening Program
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