Browsing by Author Hoefele, Julia

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Showing results 1 to 5 of 5
PreviewIssue DateTitleAuthor(s)
2018 PediatricsNephrology Volume 33 Issue 7 July (8).pdf.jpg2018Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1 , NPHS2 , and PLCE1Eichinger, Anna; Ponsel, Sabine; Bergmann, Carsten; Günthner, Roman; Hoefele, Julia; Amann, Kerstin
2016 PN Volume 31 Issue 1 January (8).pdf.jpg2016Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencingWeber, Stefanie; Büscher, Anja K; Hagmann, Henning; Liebau, Max C; Heberle, Christian; Ludwig, Michael; Rath, Sabine; Alberer, Martin; Beissert, Antje; Zenker, Martin; Hoyer, Peter F; Konrad, Martin; Klein, Hanns-georg; Hoefele, Julia
2019 PN Volume 34 Issue 7 August (22).pdf.jpg2019Expert consensus guidelines for the genetic diagnosis of Alport syndromeSavige, Judy; Ariani, Francesca; Mari, Francesca; Bruttini, Mirella; Renieri, Alessandra; Gross, Oliver; Deltas, Constantinos; Flinter, Frances; Ding, Jie; Gale, Daniel P.; Nagel, Mato; Yau, Michael; Shagam, Lev; Torra, Roser; Ars, Elisabet; Hoefele, Julia; Garosi, Guido
2016 PN Volume 31 Issue 6 June (15).pdf.jpg2016Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathyWeber, 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; Hoefele, Julia
2018 PEDIATRICSN Volume 33 Issue 3 March (13).pdf.jpg2018Mutations in INF2 may be associated with renal histology other than focal segmental glomerulosclerosisBüscher, Anja K; Celebi, Nora; Hoyer, Peter F; Klein, Hanns-georg; Weber, Stefanie; Hoefele, Julia