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...
Detection of the mutations responsibles for albinism and congenital miotonia in bu...
PML-RARA mutations and ATRA resistence in pediatric Acute Promielocytic Leukemia
Psychophysical and genetic study of color vision deficiency in humans with differe...
Diagnosis and monitoring of mutations in SARS-CoV-2, other viruses and opportunist...