# Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/nineteen-novel-nphs1-mutations-in-a-worldwide-cohort-of-patients-with-congenital/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Dominik S. Schoeb,Gil Chernin,Saskia F. Heeringa,Verena Matejas,Susanne Held,Virginia Vega-Warner,Detlef Böckenhauer,Christopher N. Vlangos,Khemchand N Moorani,Thomas J. Neuhaus,Jameela A. Kari,James W. MacDonald,Pawaree Saisawat,Shazia Ashraf,Buğsu Övünç,Martin Zenker,Friedhelm Hildebrandt,Members of the Gesselschaft für Paediatrische Nephrologie (GPN) Study Group |
| Citations | 89 |
| DOI | 10.1093/ndt/gfq088 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://academic.oup.com/ndt/article-pdf/25/9/2970/17107749/gfq088.pdf |
| OpenAlex ID | https://openalex.org/W2105495968 |
| PMID | 20172850 |
| Type | article |
| Year | 2010 |

## Paper authors

- [Dominik S. Schoeb](https://scholariq.org/researchers/dominik-s-schoeb/)

## Paper journal

- [Nephrology Dialysis Transplantation](https://scholariq.org/journals/nephrology-dialysis-transplantation/)

## Paper primary topic

- [Renal Diseases and Glomerulopathies](https://scholariq.org/topics/renal-diseases-and-glomerulopathies/)

## Paper topics

- [Renal Diseases and Glomerulopathies](https://scholariq.org/topics/renal-diseases-and-glomerulopathies/)
- [Ion Transport and Channel Regulation](https://scholariq.org/topics/ion-transport-and-channel-regulation/)
- [Renal and related cancers](https://scholariq.org/topics/renal-and-related-cancers/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.