Pitt-Hopkins Syndrome: studies on pathophysiology and genetic therapy using patien...
Modelling Richieri-Costa-Pereira Syndrome with the use of induced pluripotent stem...
NEXT GENERATION SEQUENCING FOR DETECTION OF MUTATIONS IN THYROID HURTHLE CELL CARC...
Functional role of NADPH oxidase isoform 4 (Nox4) in Marfan Syndrome
Differentiation of stem cells from human exfoliated deciduous teeth (SHED) of pati...
Genetic and epigenetic mechanisms associated with Phelan-McDermid syndrome clinica...
Endothelial phenotype as determinant of genotype/phenotype relationship in Marfan ...