Prospective evaluation of exome sequencing in the etiological investigation of syn...
Screening of variants of unkown significance (VUS) in the RET proto-oncogene in pa...
Screening of variants of unkown significance (VUS) in the RET proto-oncogene in p...
Investigation of genetic causes of neuropsychomotor developmental delay/intellectu...
ANALYSIS OF THE BIOLOGICAL CONNECTION BETWEEN IRON METABOLISM MARKERS AND ATTENTIO...
Whole exome and genomic sequencing in the identification of new genes responsible ...
To Improve the characterization of the variability and the genotype-phenotype corr...