Genetic and pathophysiological mechanisms in mendelian neurodevelopmental disorder...
Functional analysis of polymorphic genes enrolled in melanogenesis in cutaneous me...
Application of Hi-C and machine-learning tools towards detection and clinical inte...
Head and neck and esophageal squamous cell carcinoma: biomarkers derived from geno...
Next-generation sequencing and functional evaluation of genetic variants in indivi...
Congenital adrenal hyperplasia: new mutations and their effects on the enzymatic a...
Study of the effect of mutations in the chromatin modifier gene EHMT2 during neuro...