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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
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Neurodegeneration with Brain Iron Accumulation
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Huntington Disease: Clinical Features and Diagnosis
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Chediak-Higashi Syndrome: Pathognomonic Feature
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
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