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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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The Face of Myasthenia Gravis
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Clinical Manifestations of Myasthenia Gravis
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Molybdenum Cofactor Deficiency
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The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
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Facial Bradykinesia
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Angelman Syndrome Revisited
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Prenatal Exposure to Antiepileptic Drugs
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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MR Brain Imaging of Fucosidosis Type I
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The Exercise Test in Andersen Syndrome
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Prader-Willi and Angelman Syndromes
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Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
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The Epilepsy of Trisomy 9p
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Erroneous Diagnosis Corrected After 28 Years
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A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
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Ischemic Stroke and Intracranial Multifocal Cerebral Arteriopathy in Williams Syndrome
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Perinatal Brain Injury in Premature Infants Born to Mothers Using Alcohol in Pregnancy
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Acromegaly:Clinical and Biochemical Features in 500 Patients
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Cockayne Syndrome: Review of 140 Cases
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Fetal Alcohol Syndrome in Adolescents and Adults
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Congenital Brain Anomalies Associated with the Hypoplastic Left Heart Syndrome
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Prenatal Prediction of Risk of the Fetal Hydantoin Syndrome
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Physical Features of Prader-Willi Syndrome in Neonates
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The Cerebrohepatorenal (Zellweger) Syndrome
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Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
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Dominant Chondrodysplasia Punctata with Neurologic Symptoms
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