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)

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

Por Rafiq, Muhammad Arshad, Leblond, Claire S, Saqib, Muhammad Arif Nadeem, Vincent, Akshita K., Ambalavanan, Amirthagowri, Khan, Falak Sher, Ayaz, Muhammad, Shaheen, Naseema, Spiegelman, Dan, Ali, Ghazanfar, Amin-ud-din, Muhammad, Laurent, Sandra, Mahmood, Huda, Christian, Mehtab, Ali, Nadir, Fennell, Alanna, Nanjiani, Zohair, Egger, Gerald, Caron, Chantal, Waqas, Ahmed, Ayub, Muhammad, Rasheed, Saima, Forgeot d’Arc, Baudouin, Johnson, Amelie, So, Joyce, Brohi, Muhammad Qasim, Mottron, Laurent, Ansar, Muhammad, Vincent, John B, Xiong, Lan
Publicado no BMC Med Genet (2015)