Associated Papers
Factors predicting the occurrence of disease-causing variants on next-generation sequencing in children with steroid-resistant nephrotic syndrome - implications for resource-constrained settings.
Kaur A 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
Genetic Variations and Clinical Features of NPHS1-Related Nephrotic Syndrome in Chinese Children: A Multicenter, Retrospective Study.
Rong L et al.
Frontiers in Medicine, 2021
Analysis of 14 Patients With Congenital Nephrotic Syndrome.
Chen Y et al.
Frontiers in Pediatrics, 2019
Novel NPHS1 Gene Mutations in two Chinese Infants with Congenital Nephrotic Syndrome.
Li P
Indian Journal of Pediatrics, 2017
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
Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.
Ovunc B et al.
Nephron. Clinical Practice, 2012
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
Expanding the clinical spectrum of congenital nephrotic syndrome caused by NPHS1 mutations.
Godefroid N et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010
[NPHS1 mutations in a Chinese family with congenital nephrotic syndrome].
Shi Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005