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Adrenoleukodystrophy
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Molybdenum Cofactor Deficiency
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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New Strategy for Prenatal Diagnosis of X-Linked Disorders
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Prader-Willi and Angelman Syndromes
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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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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Prenatal Diagnosis of Duchenne Muscular Dystrophy Using a Single Fetal Nucleated Erythrocyte in Maternal Blood
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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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Advances in Molecular Analysis of Fragile X Syndrome
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Analysis of Dystrophin Expression after Activation of Myogenesis in Amniocytes, Chorionic-Villus Cells, and Fibroblasts
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Familial Neurofibromatosis Type 1:Clinical Experience with DNA Testing
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Detection of Full Fragile X Mutation
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Diagnosis of Duchenne & Becker Muscular Dystrophies by Polymerase Chain Reaction
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Duplication of Part of Chromosome 17 is Commonly Associated with HMSN Type I (Charcot-Marie-Tooth Disease Type 1)
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Genetic Diagnosis of Gaucher's Disease
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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
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Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence
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Acid Maltase Deficiency
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Huntingtons Disease
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