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The Autosomal Recessive Cerebellar Ataxias
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A 23-Year-Old Man With Seizures and Visual Deficit
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The Tuberous Sclerosis Complex
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Aromatic L-Amino Acid Decarboxylase Deficiency
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Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Mutations in the Sarcoglycan Genes in Patients with Myopathy
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The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
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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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Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Advances in Molecular Analysis of Fragile X Syndrome
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Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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Wilson Disease
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Genetic Diagnosis of Gaucher's Disease
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Causal Heterogeneity in Isolated Lissencephaly
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Population Screening for Fragile X
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McArdle's Disease:Biochemical and Molecular Genetic Studies
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