Quality of life of families who have children with Cornelia de Lange syndrome in B...
Assessment of mitotic and genomic stability of lymphoblastoid cells from patients...
Assessment of mitotic and genomic stability of lymphoblastoid cells from patients...
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...
Prospective evaluation of exome sequencing in the etiological investigation of syn...
Quality of life of families who have children with rare genetic diseases and/or in...