Novel De Novo Mutation in Sulfonylurea Receptor 1 Presenting as Hyperinsulinism in Infancy Followed by Overt Diabetes in Early Adolescence

Por Abdulhadi-Atwan, Maha, Bushmann, Jeremy, Tornovsky-Babaey, Sharona, Perry, Avital, Abu-Libdeh, Abdulsalam, Glaser, Benjamin, Shyng, Show-Ling, Zangen, David H.
Publicado em 2008

XX Ovarian Dysgenesis Is Caused by a PSMC3IP/HOP2 Mutation that Abolishes Coactivation of Estrogen-Driven Transcription

Por Zangen, David, Kaufman, Yotam, Zeligson, Sharon, Perlberg, Shira, Fridman, Hila, Kanaan, Moein, Abdulhadi-Atwan, Maha, Abu Libdeh, Abdulsalam, Gussow, Ayal, Kisslov, Irit, Carmel, Liran, Renbaum, Paul, Levy-Lahad, Ephrat
Publicado em 2011