Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients

por Basharat, Rabia, Rodenburg, Kim, Rodríguez-Hidalgo, María, Jarral, Afeefa, Ullah, Ehsan, Corominas, Jordi, Gilissen, Christian, Zehra, Syeda Tatheer, Hameed, Usman, Ansar, Muhammad, de Bruijn, Suzanne E.
Publicado 2023

Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies

por Saqib, Muhammad Arif Nadeem, Nikopoulos, Konstantinos, Ullah, Ehsan, Sher Khan, Falak, Iqbal, Jamila, Bibi, Rabia, Jarral, Afeefa, Sajid, Sundus, Nishiguchi, Koji M., Venturini, Giulia, Ansar, Muhammad, Rivolta, Carlo
Publicado 2015

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa

por Latif, Zahid, Chakchouk, Imen, Schrauwen, Isabelle, Lee, Kwanghyuk, Santos-Cortez, Regie Lyn P., Abbe, Izoduwa, Acharya, Anushree, Jarral, Afeefa, Ali, Imran, Ullah, Ehsan, Khan, Muhammad Nasim, Ali, Ghazanfar, Tahir, Tufail Hussain, Bamshad, Michael J., Nickerson, Deborah A., Ahmad, Wasim, Ansar, Muhammad, Leal, Suzanne M.
Publicado 2018