We described several novel neurobehavioral and neurodevelopmental disorders and identified the causative genes, e.g. PSMD12 in the Stankiewicz-Isidor syndrome (MIM 617516), BPTF in Neurodevelopmental ...
A genetic screen can potentially diagnose more than 1,200 genetic disorders and chromosomal abnormalities. If you were a medical geneticist, how would you pick the best test for your patient?
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