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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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Duchenne Muscular Dystrophy
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Angelman Syndrome Revisited
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Prader-Willi and Angelman Syndromes
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The Epilepsy of Trisomy 9p
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The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
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Angelman Syndrome: Clinical Profile
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Spinal Muscular Atrophy
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Neurodegeneration with Brain Iron Accumulation
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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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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A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
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Molybdenum Cofactor Deficiency
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Sturge-Weber Syndrome
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
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Cognitive Delay in a 7-year-old Girl
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Sturge-Weber Syndrome
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Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
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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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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Neurodevelopmental Dysfunction Among Nonreferred Children with Idiopathic Megalencephaly
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Advances in Molecular Analysis of Fragile X Syndrome
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Molecular Genetic Advances in Fragile X Syndrome
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Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
J Pediatr 123:242-247, Kelly,D.A.,et al, 1993
A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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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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Neurological Deterioration in Young Adults with Phenylketonuria
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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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Congenital Muscular Dystrophy
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Clinical Findings in Four Children with Biotinidase Deficiency Detected Through a Statewide Neonatal Screening Program
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Alexander's Disease, A Disease of Astrocytes
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