Analysis of genetic variants in rare osteochondrodysplasias using whole exome sequ...
Molecular Studies of mTOR and Tau pathways in Focal Cortical Dysplasia
Searching for mutations associated with focal cortical dysplasia using genomic str...
The human protein kinase NEK1: the characterization of its physiological activatio...
Contribution to the clinical and etiological study of the skeletal dysplasias and ...
Clinical impact of the use of genetic panels based on next generation sequencing i...
Etiological investigation of the oculoauriculofrontonasal syndrome