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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Angelman Syndrome: Clinical Profile
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A 6-Year-Old Girl with Progressive Toe Walking
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Decoding Cryptogenic Cardioembolism
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Neuroblastoma -- from Genetic Profiles to Clinical Challenge
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Learning Disability
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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A Locus for Febrile Seizures (FEB3) Maps to Chromosome 2q23-24
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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The Epilepsy of Trisomy 9p
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Clinical Significance of Fetal Choroid Plexus Cysts
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DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
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Miller-Dieker Syndrome:Detection of a Cryptic Chromosome Translocation Using in Situ Hybridization in a Family
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