The stress in children and adolescents with Williams-Beuren syndrome in the school...

Detection of lisosomal acid lipase deficiency in patients submitted to liver tra...

The PTPN11 gene analysis in Noonan syndrome patients

Neurologic assessment and neuroimaging analysis of patients with mucopolysacchar...

Study of gene copy number variation in children with conotrucal heart defects

Cytogenomic characterization of the deletion of the short arm of chromosome 5

Post-mortem tissue cytogenomics investigation in patients with congenital malfor...

Investigation of the copy number variation (CNVs) in patients with congenital anomalies...

Analysis of microsatellite DNA markers in the diagnosis of Williams- Beuren synd...

Clinical and laboratory evaluation of patients with mucopolysaccharidosis types I,...