Nephrons
Pedigree Analysis
Nephrotic Syndrome I : Introduction
Lysosomal Hydrolases
Nephrotic Syndrome II : Assessment and Medical Management
Chronic Kidney Disease II: Clinical Manifestations
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Updated: Aug 26, 2025

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
Published on: September 1, 2015
Cybel Mehawej1, Eliane Chouery1, Ramy Ghabril2
1Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
A new de novo variant in the NEK8 gene was identified in a child with infantile nephronophthisis (NPHP). This finding suggests potential autosomal dominant forms of NPHP linked to NEK8 mutations.
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