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Molybdenum Cofactor Deficiency
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Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
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Prader-Willi and Angelman Syndromes
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
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Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Clinicopath Conf, Infantile Krabbe Disease
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Phenylketonuria
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Aromatic L-Amino Acid Decarboxylase Deficiency
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Natural History of Nonketotic Hyperglycinemia in 65 Patients
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Neurologic and Developmental Disability After Extremely Preterm Birth
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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The Infant or Young Child with Developmental Delay
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Advances in Molecular Analysis of Fragile X Syndrome
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Cystic Periventricular Leukomalacia and Type of Cerebral Palsy in Preterm Infants
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Post Extracorporeal Membrane Oxygenation SPECT as a Predictor of Neurodevelopmental Outcome
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Molecular Genetic Advances in Fragile X Syndrome
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Prenatal Alcohol Exposure and Long-Term Developmental Consequences
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A 10-Year Experience with Postpump Chorea
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Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
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Value of Cranial Untrasound and MRI in Predicting Neurodevelopmental Outcome in Preterm Infants
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Significance of Seizures Associated with Extracorporeal Membrane Oxygenation
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Fucosidosis Revisited:A Review of 77 Patients
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