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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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De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
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Genetic Diagnosis of Gaucher's Disease
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Dystrophinopathy in Isolated Cases of Myopathy in Females
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Unstable DNA Sequence in Myotonic Dystrophy
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Causal Heterogeneity in Isolated Lissencephaly
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Population Screening for Fragile X
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GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
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A Clinical Study of Noonan Syndrome
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Clinical Genetics and Genetic Counseling in Alzheimer Disease
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Presymptomatic and Prenatal Diagnosis in Myotonic Dystrophy by Genetic Linkage Studies
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Predictive Testing for Huntington's Disease, Progress and Problems
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Extracranial Vertebral Artery Dissections:A Review of 13 Cases
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Episodic Disorders of Vision
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Bilateral Basal Ganglia Region Infarction after Trauma in a Patient With Bilateral Basal Ganglia Calcification
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A 26-Year-OldWoman with Headache and Eosinophilia
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