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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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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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Congenital Cytomegalovirus Infection
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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Neurodegeneration with Brain Iron Accumulation
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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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