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Newborn Screening for Fragile X Syndrome
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The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
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Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
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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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Overview of Phenylketonuria
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Mirror Writing: Neurological Reflections on an Unusual Phenomenon
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Angelman Syndrome Revisited
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Developmental Neurotoxivity of Industrial Chemicals
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Oligophrenin 1 Mutations Frequently Cause X-Linked Mental Retardation with Cerebellar Hypoplasia
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Mental Retardation
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Diffusion-Weighted Imaging of White Matter Abnormalities in Patients with 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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Mucolipidosis Type IV; Characteristic MRI Findings
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Chromosome 20 Ring:A Chromosomal Disorder Associated with a Particular Electroclinical Pattern
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Neuroimaging Findings in Late Infantile GM1 Gangliosidosis
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Association of Tuberous Sclerosis of Temporal Lobes with Autism and Atypical Autism
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Cognitive Function and Academic Performance in Neurofibromatosis 1:North
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The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
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Bilat Periventricular Nodular Heterotopia with Mental Retard & Syndactyly in Boys:New X-Linked MR Synd
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