Pubblicazioni

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

2015 - EUROPEAN JOURNAL OF HUMAN GENETICS

Cafiero, Concetta; Marangi, Giuseppe; Orteschi, Daniela; Ali, Marwan; Asaro, Alessia; Ponzi, Emanuela; Moncada, Alice; Ricciardi, Stefania; Murdolo, Marina; Mancano, Giorgia; Contaldo, Ilaria; Leuzzi, Vincenzo; Battaglia, Domenica; Mercuri, Eugenio; Slavotinek, Anne M; Zollino, Marcella

Comparison of array comparative genomic hybridization and quantitative real-time PCR-based aneuploidy screening of blastocyst biopsies

2015 - EUROPEAN JOURNAL OF HUMAN GENETICS

Capalbo, Antonio; Treff, Nathan R; Cimadomo, Danilo; Tao, Xin; Upham, Kathleen; Ubaldi, Filippo Maria; Rienzi, Laura; Scott, Richard T.