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Sturge-Weber Syndrome
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Mucolipidosis Type IV; Characteristic MRI Findings
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Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
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A Clinical Study of Noonan Syndrome
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Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
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Leigh's Disease in an Adult with Evidence of"Inhibitor Factor"in Family Members
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Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Prader-Willi and Angelman Syndromes
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X-Linked Malformation of Neuronal Migration
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Congenital Bilateral Perisylvian Syndrome:Study of 31 Patients
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Twinning and Neurologic Morbisity
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Sulfite Oxidase Deficiency:Clinical, Neuroradiologic, and Biochemical Features in Two New Patients
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Bilateral Central Macrogyria:Epilepsy, Pseudobulbar Palsy, and Mental Retardation-A Migration Disorder
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Infantile Bilateral Striatal Necrosis, Clinicopathological Classification
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Neurological Findings in Patients with the Fragile-X Syndrome
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Familial Spastic Paraplegia, Mental Retardation, & Precocious Puberty
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Kearns-Sayre Syndrome & Hypoparathyroidism
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Neurological Complications of Infantile Osteopetrosis
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An 11-year-old Boy with Language Disorder and Epilepsy
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Newborn Screening for Fragile X Syndrome
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The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
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The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Epilepsy in Children with Infantile Thiamine Deficiency
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Extension of the Clinical Spectrum of Danon Disease
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Overview of Phenylketonuria
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Angelman Syndrome Revisited
Neurologist 13:305-312, Paprocka,J.,et al, 2007
Congenital Lymphocytic Choriomeningitis Virus Infection: Spectrum of Disease
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Phenylketonuria
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The Tuberous Sclerosis Complex
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Developmental Neurotoxivity of Industrial Chemicals
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Diffusion-Weighted Imaging and Proton MR Spectroscopy of White Matter Abnormalities in a Case of Phenylketonuria
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Gray Matter Heterotopia
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Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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