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Journal Article
Jobst-Schwan, Tilman ORCID: 0000-0001-9802-6783, Pannes, Andrea, Schlingmann, Karl Peter, Eckardt, Kai-Uwe, Beck, Bodo B. and Wiesener, Michael S.
(2015).
Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis.
Kidney Blood Pressure Res., 40 (5).
S. 443 - 452.
BASEL:
KARGER.
ISSN 1423-0143
Weber, Stefanie, Thiele, Holger, Mir, Sevgi, Toliat, Mohammad Reza, Sozeri, Betuel, Reutter, Heiko, Draaken, Markus ORCID: 0000-0002-4546-0786, Ludwig, Michael, Altmueller, Janine, Frommolt, Peter
ORCID: 0000-0002-1966-8014, Stuart, Helen M., Ranjzad, Parisa
ORCID: 0000-0001-7413-4157, Hanley, Neil A., Jennings, Rachel, Newman, William G., Wilcox, Duncan T., Thiel, Uwe, Schlingmann, Karl Peter, Beetz, Rolf, Hoyer, Peter F., Konrad, Martin, Schaefer, Franz, Nuernberg, Peter and Woolf, Adrian S.
ORCID: 0000-0001-5541-1358
(2011).
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
Am. J. Hum. Genet., 89 (5).
S. 668 - 675.
CAMBRIDGE:
CELL PRESS.
ISSN 0002-9297
van der Wijst, Jenny ORCID: 0000-0002-1547-516X, Konrad, Martin, Verkaart, Sjoerd A. J., Tkaczyk, Marcin
ORCID: 0000-0003-1753-7560, Latta, Femke, Altmueller, Janine, Thieled, Holger, Beck, Bodo, Schlingmann, Karl Peter and de Baaij, Jeroen H. F.
(2018).
A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.
Nephron, 139 (4).
S. 359 - 367.
BASEL:
KARGER.
ISSN 2235-3186