Search Results - "Naim, Medhat"

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

    Published in Scientific reports (11-03-2019)
    “…Autosomal dominant polycystic kidney disease (ADPKD) is an inherited monogenic renal disease characterised by the accumulation of clusters of fluid-filled…”
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    A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with autosomal dominant polycystic kidney disease by Ali, Hamad, Hussain, Naser, Naim, Medhat, Zayed, Mohamed, Al-Mulla, Fahd, Kehinde, Elijah O, Seaburg, Lauren M, Sundsbak, Jamie L, Harris, Peter C

    Published in BMC nephrology (01-03-2015)
    “…Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of Polycystic Kidney Disease (PKD) and occurs at a frequency of 1/800 to 1/1000…”
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    Journal Article