Canlyniadau Chwilio - Schlingmann, Karl‐Peter

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia gan 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.

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Loss of insulin-induced activation of TRPM6 magnesium channels results in impaired glucose tolerance during pregnancy gan 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.

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Clinical Utility of Simultaneous Quantitation of 25-Hydroxyvitamin D and 24,25-Dihydroxyvitamin D by LC-MS/MS Involving Derivatization With DMEQ-TAD gan 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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies gan 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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome gan 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.

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis gan 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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2) gan 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.

Cael y testun llawn Cael y testun llawn Cael y testun llawn