Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis

por Chan, Alvin P., Mulatinho, Milene, Iskander, Paul, Lee, Hane, Martinez-Agosto, Julian A., Yeh, Joanna
Publicado 2019

Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report

por Mulatinho, Milene Vianna, de Carvalho Serao, Cassio Luiz, Scalco, Fernanda, Hardekopf, David, Pekova, Sona, Mrasek, Kristin, Liehr, Thomas, Weise, Anja, Rao, Nagesh, Llerena, Juan Clinton
Publicado 2012