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A Clinical Study of Noonan Syndrome
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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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Sturge-Weber Syndrome
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The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Ash-Leaf Spots in Tuberous Sclerosis
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Prader-Willi and Angelman Syndromes
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Mucolipidosis Type IV; Characteristic MRI Findings
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Muscle-Eye-Brain Disease:A Neuropathological Study
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Bilirubin Metabolism and Kernicterus
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
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Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
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Cerebellar Symptoms as Presenting Manifest of Bilirubin Encephal in Children with Crigler-Najjar Type I Disease
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Perinatal Loss and Neurological Abnormalities Among Children of the Atomic Bomb
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