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Spinal Muscular Atrophy
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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A Child with Delayed Motor Milestones and Ptosis
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Sturge-Weber Syndrome
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Phenylketonuria
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Glycogen-Storage Disease Type II
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Natural History of Nonketotic Hyperglycinemia in 65 Patients
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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Angelman Syndrome: Clinical Profile
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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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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Joubert Syndrome:A Clinico-Radiological Study
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Morbidity for Survivors of Extracorporeal Membrane Oxygenation:Neurodevelopmental Outcome at 1 Year of Age
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Congenital Muscular Dystrophy
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Recognising & Preventing Duchenne Muscular Dystrophy
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