Human Genetics · 2010 · 132 citations · 41 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsGenetic DisordersGenetic SyndromesMendelian DisordersMutation ScreeningRare Disease GeneticsRare Disease GenomicsGenome-wide Mutation ScreeningGenomic DisordersInherited Disease GeneticsMendelian Disorder GeneticsRare Disease Gene Discovery
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