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The Autosomal Recessive Cerebellar Ataxias
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LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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The Tuberous Sclerosis Complex
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Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
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What Level of Care for the Neurofibromatoses?
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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The Neurogenetic Genie:Testing for Huntington's Disease Mutation
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A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
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Myotonic Dystrophy
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Molecular Genetic Advances in Fragile X Syndrome
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Molecular Genetics in Neurology
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Tay-Sachs Disease-Carrier Screening, Prenatal Diagnosis, and the Molecular Era
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Screening for von Hippel-Lindau Disease by DNA Polymorphism Analysis
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Causal Heterogeneity in Isolated Lissencephaly
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Population Screening for Fragile X
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