Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

Por Khan, Muzammil Ahmad, Rafiq, Muhammad Arshad, Noor, Abdul, Hussain, Shobbir, Flores, Joana V., Rupp, Verena, Vincent, Akshita K., Malli, Roland, Ali, Ghazanfar, Khan, Falak Sher, Ishak, Gisele E., Doherty, Dan, Weksberg, Rosanna, Ayub, Muhammad, Windpassinger, Christian, Ibrahim, Shahnaz, Frye, Michaela, Ansar, Muhammad, Vincent, John B.
Publicado em 2012

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)