Suchergebnisse - "Domingo-Gallego, Andrea"

PubPharm (7)

1

Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants

enthalten in: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association | 2022

von Domingo-Gallego, A. | Pybus, M. | Madariaga, L. | +12

2

Clinical utility of genetic testing in early-onset kidney disease : seven genes are the main players

enthalten in: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association | 2022

von Domingo-Gallego, A. | Pybus, M. | Bullich, G. | +15

3

Next-generation sequencing in patients with familial FSGS : first report of collagen gene mutations in Tunisian patients

enthalten in: Journal of human genetics | 2021

von Ammar, S. | Kanoun, H. | Kammoun, K. | +10

4

Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome : case report and review of the literature

enthalten in: BMC nephrology | 2019

von Domingo-Gallego, A. | Furlano, M. | Pybus, M. | +5

5

Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature

enthalten in: BMC nephrology | 2019

von Domingo-Gallego, A. | Furlano, M. | Pybus, M. | +5

6

Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature

enthalten in: BMC nephrology | 2019

von Domingo-Gallego, A. | Furlano, M. | Pybus, M. | +5

7

A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases

enthalten in: Kidney international | 2018

von Bullich, G. | Domingo-Gallego, A. | Vargas, I. | +16

CommentIn: Kidney Int. 2018 Aug;94(2):237-239. - PMID 30031442

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