Study of PRCD c.5G>A mutation responsible for progressive rod-cone degeneration in...
Assessment of the mutations prcd-PRA (5G>A), GRPRA1 (SLC4A3) and PRA2 (TTC8) respo...
DNMT3A mutations, expression and function in myelodysplasic syndromes and acute my...
PML-RARA mutations and ATRA resistence in pediatric Acute Promielocytic Leukemia
KRAS-G12C: The neglected biomarker for identifying MUTYH-associated polyposis pati...
Clinical, histological and molecular study in children with lamin A/C and FKRP con...
Evaluation of TERT mutation frequency associated with breast cancer progression