Deciphering the Mechanisms of Developmental Disorders (DMDD): a new programme for phenotyping embryonic lethal mice

por Mohun, Timothy, Adams, David J., Baldock, Richard, Bhattacharya, Shoumo, Copp, Andrew J., Hemberger, Myriam, Houart, Corinne, Hurles, Matt E., Robertson, Elizabeth, Smith, James C., Weaver, Tom, Weninger, Wolfgang
Publicado 2013

Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

por Baple, Emma L., Maroofian, Reza, Chioza, Barry A., Izadi, Maryam, Cross, Harold E., Al-Turki, Saeed, Barwick, Katy, Skrzypiec, Anna, Pawlak, Robert, Wagner, Karin, Coblentz, Roselyn, Zainy, Tala, Patton, Michael A., Mansour, Sahar, Rich, Phillip, Qualmann, Britta, Hurles, Matt E., Kessels, Michael M., Crosby, Andrew H.
Publicado 2014

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

por Cirak, Sebahattin, Foley, Aileen Reghan, Herrmann, Ralf, Willer, Tobias, Yau, Shu, Stevens, Elizabeth, Torelli, Silvia, Brodd, Lina, Kamynina, Alisa, Vondracek, Petr, Roper, Helen, Longman, Cheryl, Korinthenberg, Rudolf, Marrosu, Gianni, Nürnberg, Peter, Michele, Daniel E., Plagnol, Vincent, Hurles, Matt, Moore, Steven A., Sewry, Caroline A., Campbell, Kevin P., Voit, Thomas, Muntoni, Francesco
Publicado 2013