Genetic study of epidermolysis bullosa

Angiokeratoma: a marker for the diagnosis of Fabry disease

Echocardiographic study of pediatric patients with mucopolysaccharidosis

Transcriptome study in Bloom's syndrome

Clinical and citogenetics aspects of Bloom syndrome

Next Generation Sequencing of DNA breakpoints for investigation of formation mechanisms...

Assessment of cognitive functioning of patients with Williams-Beuren Syndrome

Natural history of patients with mucopolysaccharidoses

Clinical and molecular cytogenetics investigation in patients with psychomotor delay...

Evaluation of the neurocognitive and behavioral phenotype of the 22q11.2 deletion...