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A 60-Year-Old Woman with Rapidly Progressive Muscle Weakness and Ophthalmoparesis
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Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
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A Child with Delayed Motor Milestones and Ptosis
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
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Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
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The Limbic-Girdle Muscular Dystrophies
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The Tuberous Sclerosis Complex
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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New Strategy for Prenatal Diagnosis of X-Linked Disorders
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Jaw Drop in Kennedy's Disease
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New Nomenclature and DNA Testing Guidelines for Myotonic Dystrophy Type 1 (DM1)
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The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
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Genetic Testing for Alzheimer Disease, Practical and Ethical Issues
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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