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Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice
Download from doi.orgLoss of Anks6 leads to YAP deficiency and liver abnormalities
UploadDLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
UploadRecuperation of severe tumoral calcinosis in a dialysis patient: A case report
Download from doi.orgMutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome
UploadCorticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout
UploadWhole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients
UploadMutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy
UploadMutations in WDR4 as a new cause of Galloway-Mowat syndrome
UploadGAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome
UploadMutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
Download from doi.orgPanel sequencing distinguishes monogenic forms of nephritis from nephrosis in children
UploadGenetic variants in the LAMA5 gene in pediatric nephrotic syndrome
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