Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Huntington Disease: Clinical Features and Diagnosis
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The Autosomal Recessive Cerebellar Ataxias
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Prader-Willi and Angelman Syndromes
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Rett Syndrome:Natural History and Management
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
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Spinal Muscular Atrophy
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Pyruvate Dehydrogenase Deficiency (PDCD)
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A Neonate with Micrognathia and Hypotonia
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Inherited Metabolic Diseases of the Nervous System, Infantile Niemann-Pick Disease
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Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
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Inherited Metabolic Diseases of the Nervous System, Neuronal Ceroid Lipofuscinosis (Batten Disease)
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Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
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Cognitive Delay in a 7-year-old Girl
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Glycogen-Storage Disease Type II
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Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
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Dipsticks and Convulsions
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Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
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Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Causal Heterogeneity in Isolated Lissencephaly
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Physical Features of Prader-Willi Syndrome in Neonates
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A Disorder of Azonal Development, Necrotizing Myopathy, Cardiomyopathy, and Cataracts:A New Familial Disease
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Congenital Muscular Dystrophy
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Central Core Disease, Clinical Features in 13 Patients
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
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The Cerebrohepatorenal (Zellweger) Syndrome
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Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
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Hypomelanosis of Ito (incontinentia pigmenti achromians) :Macrocephaly & Gray Matter Heterotopias
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