A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney Disease

por Ali, Hamad, Hussain, Naser, Naim, Medhat, Zayed, Mohamed, Al-Mulla, Fahd, Kehinde, Elijah O, Seaburg, Lauren M, Sundsbak, Jamie L, Harris, Peter C
Publicado 2015

PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease

por Ali, Hamad, Al-Mulla, Fahd, Hussain, Naser, Naim, Medhat, Asbeutah, Akram M., AlSahow, Ali, Abu-Farha, Mohamed, Abubaker, Jehad, Al Madhoun, Ashraf, Ahmad, Sajjad, Harris, Peter C.
Publicado 2019

The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait

por Ali, Hamad, Naim, Medhat, Senum, Sarah R, AlSahow, Ali, Bahbahani, Yousif, Abu-Farha, Mohamed, Abubaker, Jehad, Mohammad, Anwar, Al-Hunayan, Adel, Asbeutah, Akram M, Zayed, Mohamed, Devarajan, Sriraman, Hussain, Naser, John, Sumi Elsa, Channanath, Arshad, Thanaraj, Thangavel Alphonse, Al-Ali, Mohammad, AlMousawi, Mustafa, Al-Mulla, Fahd, Harris, Peter C
Publicado 2022