Stefanie Weber

Stefanie Weber

Philipps Universität Marburg - Marburg / Germany
Medical and Health Sciences / Pediatric Nephrology
AD Scientific Index ID: 1762713
Philipps University of Marburg
person_outline Stefanie Weber's MOST POPULAR ARTICLES
1-) Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene familyKP Schlingmann, S Weber, M Peters, L Niemann Nejsum, H Vitzthum, ...Nature genetics 31 (2), 166-170, 20028512002
2-) Mutations in CYP24A1 and Idiopathic Infantile HypercalcemiaKP Schlingmann, M Kaufmann, S Weber, A Irwin, C Goos, U John, ...New England Journal of Medicine 365 (5), 410-421, 20116382011
3-) Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvementM Konrad, A Schaller, D Seelow, AV Pandey, S Waldegger, A Lesslauer, ...The American Journal of Human Genetics 79 (5), 949-957, 20064862006
4-) NPHS2 mutation analysis shows genetic heterogeneityof steroid-resistant nephrotic syndrome and lowpost-transplant recurrenceS Weber, O Gribouval, EL Esquivel, V Morinière, MJ Tête, C Legendre, ...Kidney international 66 (2), 571-579, 20044682004
5-) Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE studyS Weber, V Moriniere, T Knüppel, M Charbit, J Dusek, GM Ghiggeri, ...Journal of the American Society of Nephrology 17 (10), 2864-2870, 20064272006