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
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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Global analysis of urinary extracellular vesicle small RNAs in autosomal dominant polycystic kidney disease
Published in The journal of gene medicine (01-02-2024)“…Background Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent monogenic renal disease progressing to end‐stage renal disease. There is…”
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Journal Article -
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The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait
Published in Clinical kidney journal (01-02-2023)“…Autosomal dominant polycystic kidney disease (ADPKD) is the most common renal monogenic disease, characterized by bilateral accumulation of renal 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
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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