The Tuberous Sclerosis Complex
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Tuberous Sclerosis
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
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Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
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Wilson Disease
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