The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

by Fehr, Stephanie, Wilson, Meredith, Downs, Jennepher, Williams, Simon, Murgia, Alessandra, Sartori, Stefano, Vecchi, Marilena, Ho, Gladys, Polli, Roberta, Psoni, Stavroula, Bao, Xinhua, de Klerk, Nick, Leonard, Helen, Christodoulou, John
Published 2012

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission

by Yrigollen, Carolyn M, Martorell, Loreto, Durbin-Johnson, Blythe, Naudo, Montserrat, Genoves, Jordi, Murgia, Alessandra, Polli, Roberta, Zhou, Lili, Barbouth, Deborah, Rupchock, Abigail, Finucane, Brenda, Latham, Gary J, Hadd, Andrew, Berry-Kravis, Elizabeth, Tassone, Flora
Published 2014