Thyroid dysgenesis: screening and functional analyses of mutations of the candidat...
Next-generation sequencing analysis of patients with clinical diagnosis of MODY (m...
Identification of novel genes and functional studies in nonsyndromic deafness
Congenital hypothyroidism due to thyroid disgenesis: whole exome investigation of ...
Genotype-Phenotype Correlations in Patients with Hereditary Angioedema
Functional study of CDH1 mutations implicated in cleft lip and palate through CRIS...