Hakutulokset - Schlingmann, Karl‐Peter

A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report Tekijä Altıncık, Ayça, Schlingmann, Karl Peter, Tosun, Mahya Sultan

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A Lifetime of Hypercalcemia and Hypercalciuria, Finally Explained Tekijä Jacobs, Thomas P., Kaufman, Martin, Jones, Glenville, Kumar, Rajiv, Schlingmann, Karl-Peter, Shapses, Sue, Bilezikian, John P.

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New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia Tekijä Lainez, Sergio, Schlingmann, Karl Peter, van der Wijst, Jenny, Dworniczak, Bernd, van Zeeland, Femke, Konrad, Martin, Bindels, René J, Hoenderop, Joost G

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A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia Tekijä van der Wijst, Jenny, Konrad, Martin, Verkaart, Sjoerd A.J., Tkaczyk, Marcin, Latta, Femke, Altmüller, Janine, Thiele, Holger, Beck, Bodo, Schlingmann, Karl Peter, de Baaij, Jeroen H.F.

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Loss of insulin-induced activation of TRPM6 magnesium channels results in impaired glucose tolerance during pregnancy Tekijä Nair, Anil V., Hocher, Berthold, Verkaart, Sjoerd, van Zeeland, Femke, Pfab, Thiemo, Slowinski, Torsten, Chen, You-Peng, Schlingmann, Karl Peter, Schaller, André, Gallati, Sabina, Bindels, René J., Konrad, Martin, Hoenderop, Joost G.

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Clinical Utility of Simultaneous Quantitation of 25-Hydroxyvitamin D and 24,25-Dihydroxyvitamin D by LC-MS/MS Involving Derivatization With DMEQ-TAD Tekijä Kaufmann, Martin, Gallagher, J. Christopher, Peacock, Munro, Schlingmann, Karl-Peter, Konrad, Martin, DeLuca, Hector F., Sigueiro, Rita, Lopez, Borja, Mourino, Antonio, Maestro, Miguel, St-Arnaud, René, Finkelstein, Joel S., Cooper, Donald P., Jones, Glenville

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Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies Tekijä König, Jens, Kranz, Birgitta, König, Sabine, Schlingmann, Karl Peter, Titieni, Andrea, Tönshoff, Burkhard, Habbig, Sandra, Pape, Lars, Häffner, Karsten, Hansen, Matthias, Büscher, Anja, Bald, Martin, Billing, Heiko, Schild, Raphael, Walden, Ulrike, Hampel, Tobias, Staude, Hagen, Riedl, Magdalena, Gretz, Norbert, Lablans, Martin, Bergmann, Carsten, Hildebrandt, Friedhelm, Omran, Heymut, Konrad, Martin

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Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome Tekijä Weber, Stefanie, Thiele, Holger, Mir, Sevgi, Toliat, Mohammad Reza, Sozeri, Betül, Reutter, Heiko, Draaken, Markus, Ludwig, Michael, Altmüller, Janine, Frommolt, Peter, Stuart, Helen M., Ranjzad, Parisa, 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, Nürnberg, Peter, Woolf, Adrian S.

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Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis Tekijä Dasgupta, Debayan, Wee, Mark J., Reyes, Monica, Li, Yuwen, Simm, Peter J., Sharma, Amita, Schlingmann, Karl-Peter, Janner, Marco, Biggin, Andrew, Lazier, Joanna, Gessner, Michaela, Chrysis, Dionisios, Tuchman, Shamir, Baluarte, H. Jorge, Levine, Michael A., Tiosano, Dov, Insogna, Karl, Hanley, David A., Carpenter, Thomas O., Ichikawa, Shoji, Hoppe, Bernd, Konrad, Martin, Sävendahl, Lars, Munns, Craig F., Lee, Hang, Jüppner, Harald, Bergwitz, Clemens

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The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2) Tekijä Franken, Gijs A. C., Müller, Dominik, Mignot, Cyril, Keren, Boris, Lévy, Jonathan, Tabet, Anne‐Claude, Germanaud, David, Tejada, María‐Isabel, Kroes, Hester Y., Nievelstein, Rutger A. J., Brimble, Elise, Ruzhnikov, Maria, Claverie‐Martin, Felix, Szczepańska, Maria, Ćuk, Martin, Latta, Femke, Konrad, Martin, Martínez‐Cruz, Luis A., Bindels, René J. M., Hoenderop, Joost G. J., Schlingmann, Karl‐Peter, de Baaij, Jeroen H. F.

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