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Advances in Molecular Analysis of Fragile X Syndrome
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Do Young Boys with Fragile X Syndrome have Macroorchidism
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Molecular Genetic Advances in Fragile X Syndrome
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Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
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Neurological Complications of Infantile Osteopetrosis
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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Neuroimaging Features of Biotinidase Deficiency
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Spinal Muscular Atrophy
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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When Should a Brain MRI Be Performed in Children with New-Onset Seizures? Results of a Large Prospectice Trial
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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Congenital Cytomegalovirus Infection
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Duchenne Muscular Dystrophy
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An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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Neurodegeneration with Brain Iron Accumulation
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Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
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A Child with Arthrogryposis
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Pontine Tegmental Cap Dysplasia in a Neonate
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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 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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A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
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Molybdenum Cofactor Deficiency
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Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients
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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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Sturge-Weber Syndrome
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The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
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Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Hydrocephalus
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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, The Phenylketonuria
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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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Early Child Development and Exposure to Antiepileptic Drugs Prenatally and Through Breastfeeding
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Sturge-Weber Syndrome
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Development of a Suspicion Index to Aid Diagnosis of Niemann-Pick Disease Type C
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Child Development Following In Utero Exposure: Levetiracetam vs Sodium Valproate
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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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MRI in Methylmalonic Acidemia
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