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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Clinicopathologic Conference, Infant Botulism, Case 3-2024
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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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A Teenager with Shortness of Breath and Difficulty Walking
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Congenital Cytomegalovirus Infection
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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The Autosomal Recessive Cerebellar Ataxias
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Aicardi-Gouti�res Syndrome
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Presentation of Narcolepsy After 40
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Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
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Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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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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Early Severe Infantile Botulism
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Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
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Fucosidosis Revisited:A Review of 77 Patients
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Rett Syndrome:Natural History and Management
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The Neuropathy of Acute Intermittent Porphyria
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