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The Phenotypic Continuum of ATP1A3-Related Disorders
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A Teenager with Shortness of Breath and Difficulty Walking
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Congenital Cytomegalovirus Infection
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Human Botulism Immune Globulin for the Treatment of Infant Botulism
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A Floppy Child with Failure to Thrive
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Presentation of Narcolepsy After 40
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Prader-Willi and Angelman Syndromes
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A Clinical Study of Noonan Syndrome
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Fucosidosis Revisited:A Review of 77 Patients
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Hypomelanosis of Ito (incontinentia pigmenti achromians) :Macrocephaly & Gray Matter Heterotopias
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