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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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An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
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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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Angelman Syndrome Revisited
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Practice Parameter: Evaluation of the Child with Global Developmental Delay
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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The Epilepsy of Trisomy 9p
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Subcortical Heterotopia:A Distinct Clinicoradiologic Entity
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Congenital Bilateral Perisylvian Syndrome:Study of 31 Patients
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Angelman Syndrome: Clinical Profile
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A Clinical Study of Noonan Syndrome
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The Spectrum of Lissencephaly:Report of Ten Patients Analyzed by Magnetic Resonance Imaging
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Bilateral Central Macrogyria:Epilepsy, Pseudobulbar Palsy, and Mental Retardation-A Migration Disorder
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Rett Syndrome:Natural History and Management
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Recognising & Preventing Duchenne Muscular Dystrophy
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The Aicardi Syndrome:Report of 4 Cases & Review of the Literature
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