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Molecular Genetic Characterization of an X-Linked Form of Leigh's Syndrome
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The Mutations at nt 8993 of Mitochondrial DNA is a Common Cause of Leigh's Syndrome
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Intracranial Neoplasms and Paraneoplastic Disorders
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The Autosomal Recessive Cerebellar Ataxias
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Spinal Muscular Atrophy A Timely Review
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LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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Detection of Human Herpesvirus-6 in Cerebrospinal Fluid of Patients with Encephalitis
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Diagnosis and New Treatment in Muscle Channelopathies
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Neurofibromatosis Type 2
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Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
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