Molecular genetic study in individuals with midline malformations and hypotelorism...
Identification of novel genes and functional studies in nonsyndromic deafness
A combined approach of karyotype, polymorphic microsatellite segregation analysis,...
Investigation of the copy number variations and complex rearrangements in patients...
Evaluation of genomic copy number variation of genes that predispose patients with...
Cytogenomic investigation in patients with congenital anomalies and mental retarda...
Detection of CYP21A2 large gene rearrangements through the Multiplex Ligation-Depe...