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List of works by Shazia Ashraf

A systematic approach to mapping recessive disease genes in individuals from outbred populations

scientific article

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

scientific article

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

scientific article published on 8 July 2013

FAT1 mutations cause a glomerulotubular nephropathy

scientific article

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

scientific article

Mutations in EMP2 cause childhood-onset nephrotic syndrome

scientific article

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

scientific article published on 14 August 2017

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

scientific journal article

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

scientific article

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

scientific article

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