Comparison of clinical heterogeneity among carriers with genetic imbalance on 22q11.2...

Elucidation of sporadic intellectual disability etiology by exome sequencing of affected...

Genetic investigation of syndromic obesity and development of biological models to...

Copy number variants in patients with syndromic hearing impairment

Investigating the genetic etiology of familial intellectual disability by whole exome...

Genetic and epigenetic abnormalities in the embryonal tumor hepatoblastoma

SNP array as a tool to detect structural alterations and copy number variations in...

Syndromic intellectual disability diagnosis by next-generation sequencing in consanguineous...

Genomic and epigenomic alterations in the anatomopathological and cognitive manifestations...