Comment on homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene

Por Khan, Muzammil Ahmad
Publicado no Int J Ophthalmol (2017)

Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome

Por Khan, Muzammil Ahmad, Mohan, Sumitra, Zubair, Muhammad, Windpassinger, Christian
Publicado no BMC Med Genet (2016)

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

Por Khan, Muzammil Ahmad, Rafiq, Muhammad Arshad, Noor, Abdul, Ali, Nadir, Ali, Ghazanfar, Vincent, John B, Ansar, Muhammad
Publicado em 2011

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family

Por Khan, Anwar Kamal, Muhammad, Noor, Aziz, Abdul, Khan, Sher Alam, Shah, Khadim, Nasir, Abdul, Khan, Muzammil Ahmad, Khan, Saadullah
Publicado no BMC Med Genet (2017)

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

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

Por Rafiq, Muhammad Arshad, Kuss, Andreas W., Puettmann, Lucia, Noor, Abdul, Ramiah, Annapoorani, Ali, Ghazanfar, Hu, Hao, Kerio, Nadir Ali, Xiang, Yong, Garshasbi, Masoud, Khan, Muzammil Ahmad, Ishak, Gisele E., Weksberg, Rosanna, Ullmann, Reinhard, Tzschach, Andreas, Kahrizi, Kimia, Mahmood, Khalid, Naeem, Farooq, Ayub, Muhammad, Moremen, Kelley W., Vincent, John B., Ropers, Hans Hilger, Ansar, Muhammad, Najmabadi, Hossein
Publicado em 2011

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

Por Rafiq, Muhammad Arshad, Kuss, Andreas W., Puettmann, Lucia, Noor, Abdul, Ramiah, Annapoorani, Ali, Ghazanfar, Hu, Hao, Kerio, Nadir Ali, Xiang, Yong, Garshasbi, Masoud, Khan, Muzammil Ahmad, Ishak, Gisele E., Weksberg, Rosanna, Ullmann, Reinhard, Tzschach, Andreas, Kahrizi, Kimia, Mahmood, Khalid, Naeem, Farooq, Ayub, Muhammad, Moremen, Kelley W., Vincent, John B., Ropers, Hans Hilger, Ansar, Muhammad, Najmabadi, Hossein
Publicado em 2011