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Spinal Muscular Atrophy A Timely Review
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
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Physical Features of Prader-Willi Syndrome in Neonates
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Creutzfeldt-Jakob Disease in a Young Woman
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The Epilepsy of Trisomy 9p
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Detecting Susceptibility to Malignant Hyperthermia
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Causal Heterogeneity in Isolated Lissencephaly
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Angelman Syndrome: Clinical Profile
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