|
Eine Ebene nach oben |
Gruppiert nach:
Dokumententyp
| Veröffentlichungsdatum
Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 4
Zeitschriftenartikel
Riedhammer, Korbinian M.; Braunisch, Matthias C.; Guenthner, Roman; Wagner, Matias; Hemmer, Clara; Strom, Tim M.; Schmaderer, Christoph; Renders, Lutz; Tasic, Velibor; Gucev, Zoran; Nushi-Stavileci, Valbona; Putnik, Jovana; Stajic, Natasa; Weidenbusch, Marc; Uetz, Barbara; Montoya, Carmen; Strotmann, Peter; Ponsel, Sabine; Lange-Sperandio, Baerbel und Hoefele, Julia
(2020):
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.
In: American Journal of Kidney Diseases, Bd. 76, Nr. 4: S. 460-470
Eichinger, Anna; Ponsel, Sabine; Bergmann, Carsten; Günthner, Roman; Hoefele, Julia; Amann, Kerstin und Lange-Sperandio, Baerbel
(2018):
Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1.
In: Pediatric Nephrology, Bd. 33, Nr. 7: S. 1269-1272
Günthner, Roman; Wagner, Matias; Thurm, Tobias; Ponsel, Sabine; Hoefele, Julia und Lange-Sperandio, Baerbel
(2018):
Identification of co-occurrence in a patient with Dent's disease and ADA2-deficiency by exome sequencing.
In: Gene, Bd. 649: S. 23-26
Weber, Stefanie; Strasser, Katja; Rath, Sabine; Kittke, Achim; Beicht, Sonja; Alberer, Martin; Lange-Sperandio, Bärbel; Hoyer, Peter F.; Benz, Marcus R.; Ponsel, Sabine; Weber, Lutz T.; Klein, Hanns-Georg und Hoefele, Julia
(2016):
Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.
In: Pediatric Nephrology, Bd. 31, Nr. 6: S. 941-955