We have demostrated that we can improve diagnostic yield by 5% using extended approaches to exome analysis.
COBISS.SI-ID: 4601516
Transcriptome profiling uncovered potential common homeostatic mechanisms involved in fetal trisomies 18 and 21
COBISS.SI-ID: 4722348
We identified new gene for early infantile epileptic encephalopathy
COBISS.SI-ID: 4688812