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Ehlers-Danlos Syndromes
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The Tuberous Sclerosis Complex
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Sensorineural Hearing Loss in Children
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Clinical and Genetic Aspects of Distal Myopathies
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Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Prader-Willi and Angelman Syndromes
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Mutations in the Sarcoglycan Genes in Patients with Myopathy
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
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Clinical Genetics in Neurological Disease
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A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
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Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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Unstable DNA Sequence in Myotonic Dystrophy
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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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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Genetic Markers for Neurofibromatosis
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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Genetics of Cluster Headache Takes a Leap
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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