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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Molybdenum Cofactor Deficiency
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Angelman Syndrome Revisited
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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The Epilepsy of Trisomy 9p
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
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Angelman Syndrome: Clinical Profile
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A Clinical Study of Noonan Syndrome
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
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Neurological Findings in Patients with the Fragile-X Syndrome
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Fragile X Syndrome:Associated Neurological Abnormalities & Developmental Disabilities
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Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
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