Concepedia

Stefanie Weber

SW

56

Publications

5.2K

Citations

32

H-Index

1994

Active since

Affiliations

Philipps University of Marburg(Current)

University Hospital Heidelberg

Heidelberg University

University of Duisburg-Essen

Essen University Hospital

Stefanie Weber is an author at Philipps University of Marburg specializing in medicine, genetics, and pathology.

ORCID

Top concepts

Publications per year

1994–2024

56

Publications

56

Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family

Karl P. Schlingmann, Stefanie Weber, Melanie Peters et al. · Nature Genetics · 2002 · 775 citations

, , +8

Mutations in<i>CYP24A1</i>and Idiopathic Infantile Hypercalcemia

Karl P. Schlingmann, Martin Kaufmann, Stefanie Weber et al. · New England Journal of Medicine · 2011 · 663 citations · Full text

Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement

Martin Konrad, André Schaller, Dominik Seelow et al. · The American Journal of Human Genetics · 2006 · 511 citations · Full text

, , +7

NPHS2 mutation analysis shows genetic heterogeneityof steroid-resistant nephrotic syndrome and lowpost-transplant recurrence

Stefanie Weber, Olivier Gribouval, Ernie Esquivel et al. · Kidney International · 2004 · 368 citations · Full text

, , +10

Novel Paracellin-1 Mutations in 25 Families with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

Stefanie Weber, Linda Schneider, Melanie Peters et al. · Journal of the American Society of Nephrology · 2001 · 269 citations

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