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Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. Nat Genet 48, 457-65 (2016).
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int 89, 468-475 (2016).
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest 128, 4313-4328 (2018).
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Nephrol Dial Transplant 34, 485-493 (2019).
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. Am J Med Genet A 176, 2460-2465 (2018).
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet 49, 1529-1538 (2017).