No abstract available
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Alleles
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Brain / abnormalities
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Brain / diagnostic imaging
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Genetic Association Studies
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Genetic Predisposition to Disease
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Genetic Variation*
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Genotype
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Humans
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Hydro-Lyases / genetics*
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Intellectual Disability / diagnosis*
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Intellectual Disability / genetics*
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Magnetic Resonance Imaging
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Neurodevelopmental Disorders / diagnosis*
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Neurodevelopmental Disorders / genetics*
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Pedigree
Substances
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Hydro-Lyases
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pseudouridylate synthetase