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Clinicopathologic Conference, Infant Botulism, Case 3-2024
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
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Spinal Muscular Atrophy
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Congenital Cytomegalovirus Infection
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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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Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
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Presentation of Narcolepsy After 40
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Prader-Willi and Angelman Syndromes
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Early Severe Infantile Botulism
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Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
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A Clinical Study of Noonan Syndrome
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Fucosidosis Revisited:A Review of 77 Patients
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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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