New Topics
Research HighlightGene therapy brings mobility to patients
Research HighlightMELAS: Dietary supplement approved for rare mitochondrial disease
Research HighlightNew overgrowth gene identified
Research HighlightWell-studied gene implicated in rare syndrome
Research HighlightSON mutation causes intellectual disability
Research HighlightDifferential diagnosis may help spot NINJAs
Research HighlightUnmasking genetic diseases masquerading as cerebral palsy
Research HighlightModel provides new clues on genetic hearing loss
Research HighlightRapid test pinpoints enzyme-related immune deficiency
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