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A Young Woman with Rapidly Progressive Weakness and Paresthesia
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Spinal Muscular Atrophy
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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A Neonate with Micrognathia and Hypotonia
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The Autosomal Recessive Cerebellar Ataxias
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Glycogen-Storage Disease Type II
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Dipsticks and Convulsions
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Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
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Causal Heterogeneity in Isolated Lissencephaly
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A Clinical Study of Noonan Syndrome
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Physical Features of Prader-Willi Syndrome in Neonates
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A Disorder of Azonal Development, Necrotizing Myopathy, Cardiomyopathy, and Cataracts:A New Familial Disease
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Central Core Disease, Clinical Features in 13 Patients
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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The Cerebrohepatorenal (Zellweger) Syndrome
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Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
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Hypomelanosis of Ito (incontinentia pigmenti achromians) :Macrocephaly & Gray Matter Heterotopias
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