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1 Ergebnisse
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Novel homozygous OSGEP gene pathogenic variants in two unre..:
Andrea Domingo-Gallego
;
Mónica Furlano
;
Marc Pybus
...
http://link.springer.com/article/10.1186/s12882-019-1317-y. , 2019
Link:
https://doi.org/10.1186/s12882-019-1317-y
RT Journal T1
Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:19ec872cd55c411db444b0c2ba418207&Exemplar=1&LAN=DE A1 Andrea Domingo-Gallego A1 Mónica Furlano A1 Marc Pybus A1 Daniel Barraca A1 Ana Belén Martínez A1 Emiliano Mora Muñoz A1 Roser Torra A1 Elisabet Ars PB BMC YR 2019 K1 Galloway-Mowat syndrome K1 Nephrotic syndrome K1 OSGEP K1 KEOPS complex K1 Genetic testing K1 Case report K1 Diseases of the genitourinary system. Urology K1 RC870-923 JF http://link.springer.com/article/10.1186/s12882-019-1317-y LK http://dx.doi.org/https://doi.org/10.1186/s12882-019-1317-y DO https://doi.org/10.1186/s12882-019-1317-y SF ELIB - SuUB Bremen
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