about
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy.
P50
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P50
description
researcher, ORCID id # 0000-0001-8299-8342
@en
wetenschapper
@nl
name
Hanan M Fathy
@ast
Hanan M Fathy
@en
Hanan M Fathy
@es
Hanan M Fathy
@nl
type
label
Hanan M Fathy
@ast
Hanan M Fathy
@en
Hanan M Fathy
@es
Hanan M Fathy
@nl
prefLabel
Hanan M Fathy
@ast
Hanan M Fathy
@en
Hanan M Fathy
@es
Hanan M Fathy
@nl
P106
P1153
53871336300
P31
P496
0000-0001-8299-8342