Search Results - Schlingmann, Karl‐Peter

  • Showing 1 - 10 results of 10
Refine Results
  1. 1
    A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report

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

    Published 2016
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  2. 2
    A Lifetime of Hypercalcemia and Hypercalciuria, Finally Explained

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

    Published 2014
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  3. 3
    New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia

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

    Published 2014
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  4. 4
    A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia

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

    Published 2018
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  5. 5
    Loss of insulin-induced activation of TRPM6 magnesium channels results in impaired glucose tolerance during pregnancy

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

    Published 2012
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  6. 6
    Clinical Utility of Simultaneous Quantitation of 25-Hydroxyvitamin D and 24,25-Dihydroxyvitamin D by LC-MS/MS Involving Derivatization With DMEQ-TAD

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

    Published 2014
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  7. 7
    Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies

    Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies by 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

    Published 2017
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  8. 8
    Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome

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

    Published 2011
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  9. 9
    Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis

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

    Published 2014
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  10. 10
    The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)

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

    Published 2021
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:

Search Tools: