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Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)
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Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA
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Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures
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A reassessment of copy number variations in congenital heart defects : picturing the whole genome
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Arterial tortuosity syndrome : an ascorbate compartmentalization disorder?