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Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
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Genetic Analysis Enables Definite and Rapid Diagnosis of Cerebrotendinous Xanthomatosis
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Machado-Joseph Disease in 4 Chinese Pedigrees:Molecular Analysis of 15 Pts
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Misdiagnosis Revealed by Genetic Linkage Analysis in a Family with Wilson Disease
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Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
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Correlations Between Triplet Repeat Expansion and Clinical Features in Huntington's Disease
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Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
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Hereditary Hemorrhagic Telangiectasia
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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