POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

Por Di Costanzo, Stefania, Balasubramanian, Anuradha, Pond, Heather L., Rozkalne, Anete, Pantaleoni, Chiara, Saredi, Simona, Gupta, Vandana A., Sunu, Christine M., Yu, Timothy W., Kang, Peter B., Salih, Mustafa A., Mora, Marina, Gussoni, Emanuela, Walsh, Christopher A., Manzini, M. Chiara
Publicado em 2014

CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis

Por Manzini, M. Chiara, Xiong, Lan, Shaheen, Ranad, Tambunan, Dimira E., Di Costanzo, Stefania, Mitisalis, Vanessa, Tischfield, David J., Cinquino, Antonella, Ghaziuddin, Mohammed, Christian, Mehtab, Jiang, Qin, Laurent, Sandra, Nanjiani, Zohair A., Rasheed, Saima, Hill, R. Sean, Lizarraga, Sofia B., Gleason, Danielle, Sabbagh, Diya, Salih, Mustafa A., Alkuraya, Fowzan S., Walsh, Christopher A.
Publicado no Cell Rep (2014)