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

Molecular findings of rare diseases

Williams-Beuren syndrome: molecular diagnoses using polimorphic markers to 7q11.23...

Clinical and laboratorial evaluation of patients with Kabuki syndrome

The functionality of the peripheral and central auditory pathways in Williams sy...

Characterization of the nutritional status of patients with WilliamsBeuren syndr...

Analysis of soluble mediators of promotion and suppression of the immune response...

Clinical and molecular study in patients with pigmentary skin anomalies associated...

Dental evaluation of Kabuki syndrome patients

Frequency of Chromosomal disorders in patients assisted at Instituto da Criança genetic...