Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases

by Maria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, Lidia Pezzani, Marco Baccarin, Laura Fontana, Silvia M. Sirchia, Silvana Guerneri, Lorena Canazza, Ernesto Leva, Lorenzo Colombo, Faustina Lalatta, Fabio Mosca, Silvia Tabano, Monica Miozzo
Published 2017-10-01

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

by Lidia Pezzani, Laura Pezzoli, Alessandra Pansa, Barbara Facchinetti, Daniela Marchetti, Agnese Scatigno, Anna R. Lincesso, Loredana Perego, Monica Pingue, Isabella Pellicioli, Lucia Migliazza, Giovanna Mangili, Lorenzo Galletti, Ursula Giussani, Ezio Bonanomi, Anna Cereda, Maria Iascone
Published 2020-03-01