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Neonatal Seizures
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Spinal Muscular Atrophy
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Recurrent Cerebral Ischemia During Pregnancies
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Use of MRI in the Diagnosis of Fetal Brain Abnormalities in Utero (MERIDIAN): A Multicentre, Prospective Cohort Study
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Aicardi-Gouti�res Syndrome
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Tuberous Sclerosis
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
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Restless Legs Syndrome: Is Treatable But Under-Recognised
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Adrenoleukodystrophy
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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New Strategy for Prenatal Diagnosis of X-Linked Disorders
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Prader-Willi and Angelman Syndromes
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Genetic Analysis Enables Definite and Rapid Diagnosis of Cerebrotendinous Xanthomatosis
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The Muscular Dystrophies
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Prenatal Diagnosis of Duchenne Muscular Dystrophy Using a Single Fetal Nucleated Erythrocyte in Maternal Blood
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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Advances in Molecular Analysis of Fragile X Syndrome
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Analysis of Dystrophin Expression after Activation of Myogenesis in Amniocytes, Chorionic-Villus Cells, and Fibroblasts
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Familial Neurofibromatosis Type 1:Clinical Experience with DNA Testing
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Detection of Full Fragile X Mutation
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Wilson Disease
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Diagnosis of Duchenne & Becker Muscular Dystrophies by Polymerase Chain Reaction
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Duplication of Part of Chromosome 17 is Commonly Associated with HMSN Type I (Charcot-Marie-Tooth Disease Type 1)
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Genetic Diagnosis of Gaucher's Disease
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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
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Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence
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Fucosidosis Revisited:A Review of 77 Patients
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Acid Maltase Deficiency
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A 26-Year-OldWoman with Headache and Eosinophilia
Neurol 104:e213434, Goh,W.G.W.,et al, 2025
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
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Diagnosis and Management of Cerebral Venous Thrombosis:A Scientific Statement From the American Heart Association
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Vitamin B12 Deficiency:NICE Guideline Summary
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Genome Sequencing in the NICU and PICU is Here to Stay
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Current and Emerging Issues in Wilsons Disease
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Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
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Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
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More Than a Little Unsteady
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Amyotrophic Lateral Sclerosis
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A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
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Updates on Sturge-Weber Syndrome
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Sturge-Weber Syndrome
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Alzheimers Disease
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