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The Autosomal Recessive Cerebellar Ataxias
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Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
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Fucosidosis Revisited:A Review of 77 Patients
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Congenital Inflammatory Myopathy
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Physical Features of Prader-Willi Syndrome in Neonates
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Congenital Muscular Dystrophy
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Rett Syndrome:Natural History and Management
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Neurologic and Cognitive Deficits in Children with Cystinosis
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Central Core Disease, Clinical Features in 13 Patients
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Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
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Congenital Myotonic Dystrophy
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