Associated Papers
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
Mendelian steroid resistant nephrotic syndrome in childhood: is it as common as reported?
Arslan Z et al.
Pediatric Nephrology (berlin, Germany), 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Genetics of congenital and infantile nephrotic syndrome.
Sharief SN et al.
World Journal of Pediatrics : Wjp, 2019
Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome.
Yang F et al.
Journal of Genetics, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation.
Uysal B et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.
McCarthy HJ et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
Schoeb DS et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
Machuca E et al.
Journal of the American Society of Nephrology : Jasn, 2010