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Neurofibromatosis Type 2
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Learning Disability
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Amyotrophic Lateral Sclerosis
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Natural History in Proximal Spinal Muscular Atrophy
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Detecting Susceptibility to Malignant Hyperthermia
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Causal Heterogeneity in Isolated Lissencephaly
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Cockayne Syndrome: Review of 140 Cases
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Fucosidosis Revisited:A Review of 77 Patients
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Corneal Opacification in Infancy
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