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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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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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Molybdenum Cofactor Deficiency
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Prader-Willi and Angelman Syndromes
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Niemann-Pick Disease Type C from Bench to Bedside
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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