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LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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Neurofibromatosis Type 2
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Parkinson Disease, 10 Years After Its Genetic Revolution: Multiple Clues to a Complex Disorder
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The Tuberous Sclerosis Complex
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Mitochondrial DNA Polymerase-y and Human Disease
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Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Genetic Analysis Enables Definite and Rapid Diagnosis of Cerebrotendinous Xanthomatosis
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The Muscular Dystrophies
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The Diagnostic Evaluation & Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2
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Chromosome 19 Single-Locus & Multilocus Haplotype Assoc with MS, Evid of New Suscept Locus in Caucasian & Chinese Pts
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Complete Genomic Screen in Late-Onset Familial Alzheimer Disease, Evidence for a New Locus on Chromosome 12
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From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
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Misdiagnosis Revealed by Genetic Linkage Analysis in a Family with Wilson Disease
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The Inherited Ataxias and the New Genetics
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Clin Electrophy & Molec Correl in 13 Families with Hered Neurop with Liabil to Press Palsies & Chromosome 17p11. 2 Deletion
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Clinical Consequences of Isolating the Gene for Huntington's Disease
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Late-Onset Friedreich's Ataxia, Molecular Genetics, Clinical Neurophysiology, and Magnetic Resonance Imaging
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The DNA Laboratory and Neurolgoical Practice
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Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
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Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
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