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Plasma C3d levels as a diagnostic marker for complete complement factor I deficiency
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
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- Journal Article
- A1
- open access
Megalencephalic leukoencephalopathy with subcortical cysts : characterization of disease variants
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- Journal Article
- A1
- open access
TSC-associated neuropsychiatric disorders (TAND) : findings from the TOSCA natural history study
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- Journal Article
- A1
- open access
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections
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- Journal Article
- A1
- open access
Polymicrogyria with dysmorphic basal ganglia? Think tubulin!