The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario

por Kennedy, Shelley, Potter, Beth K, Wilson, Kumanan, Fisher, Lawrence, Geraghty, Michael, Milburn, Jennifer, Chakraborty, Pranesh
Publicado 2010

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis

por Imtiaz, Faiqa, Taibah, Khalid, Bin-Khamis, Ghada, Kennedy, Shelley, Hemidan, Amal, Al-Qahtani, Faisal, Tabbara, Khalid, Mubarak, Bashayer Al, Ramzan, Khushnooda, Meyer, Brian F., Al-Owain, Mohammed
Publicado 2012

A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population

por Imtiaz, Faiqa, Taibah, Khalid, Ramzan, Khushnooda, Bin-Khamis, Ghada, Kennedy, Shelley, Al-Mubarak, Bashayer, Trabzuni, Daniah, Allam, Rabab, Al-Mostafa, Abeer, Sogaty, Sameera, Al-Shaikh, Abdulmoneem H, Bamukhayyar, Saeed S, Meyer, Brian F, Al-Owain, Mohammed
Publicado 2011

Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy

por Al-Owain, Mohammed, Kaya, Namik, Al-Zaidan, Hamad, Bin Hussain, Ibrahim, Al-Manea, Hadeel, Al-Hindi, Hindi, Kennedy, Shelley, Iqbal, M. Anwar, Al-Mojalli, Hamad, Al-Bakheet, Albandary, Puel, Anne, Casanova, Jean-Laurent, Al-Muhsen, Saleh
Publicado 2010