Skip to contents

  1. Jaureguiberry, Graciana [Author]; De la Dure-Molla, Muriel [Author]; Parry, David [Author]; Quentric, Mickael [Author]; Himmerkus, Nina [Author]; Koike, Toshiyasu [Author]; Poulter, James [Author]; Klootwijk, Enriko [Author]; Robinette, Steven L. [Author]; Howie, Alexander J. [Author]; Patel, Vaksha [Author]; Figueres, Marie-Lucile [Author]; Stanescu, Horia C. [Author]; Issler, Naomi [Author]; Nicholson, Jeremy K. [Author]; Bockenhauer, Detlef [Author]; Laing, Christopher [Author]; Walsh, Stephen B. [Author]; McCredie, David A. [Author]; Povey, Sue [Author]; Asselin, Audrey [Author]; Picard, Arnaud [Author]; Coulomb, Aurore [Author]; Medlar, Alan J. [Author]; [...]

    Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsNephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal RecessiveFAM20AMutations

    Books
    View online
    Schließen
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Basel: Karger, 23 February 2013

    Published in: Nephron. Physiology ; 122 (2012), 1-2

  6. Jaureguiberry, Graciana; Carpenter, Thomas O.; Forman, Stuart; Jüppner, Harald; Bergwitz, Clemens

    A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    American Physiological Society, 2008

    Published in: American Journal of Physiology-Renal Physiology

  7. Jaureguiberry, Graciana; van’t Hoff, William; Mushtaq, Imran; Desai, Divyesh; Mann, Nicholas P.; Kleta, Robert; Bichet, Daniel G.; Bockenhauer, Detlef

    A patient with polyuria and hydronephrosis: answer

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2011

    Published in: Pediatric Nephrology

  8. Jaureguiberry, Graciana; van’t Hoff, William; Mushtaq, Imran; Desai, Divyesh; Mann, Nicholas P.; Kleta, Robert; Bichet, Daniel G.; Bockenhauer, Detlef

    A patient with polyuria and hydronephrosis: question

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2011

    Published in: Pediatric Nephrology

  9. Patel, Vaksha; Klootwijk, Enriko; Whiting, Gail; Bockenhauer, Detlef; Siew, Keith; Walsh, Stephen; Bleich, Markus; Himmerkus, Nina; Jaureguiberry, Graciana; Issler, Naomi; Godovac‐Zimmermann, Jasminka; Kleta, Robert; Wheeler, Jun

    Quantification of FAM20A in human milk and identification of calcium metabolism proteins

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Wiley, 2021

    Published in: Physiological Reports

  11. Issler, Naomi; Afonso, Sara; Weissman, Irith; Jordan, Katrin; Cebrian-Serrano, Alberto; Meindl, Katrin; Dahlke, Eileen; Tziridis, Konstantin; Yan, Guanhua; Robles-López, José M.; Tabernero, Lydia; Patel, Vaksha; Kesselheim, Anne; Klootwijk, Enriko D.; Stanescu, Horia C.; Dumitriu, Simona; Iancu, Daniela; Tekman, Mehmet; Mozere, Monika; Jaureguiberry, Graciana; Outtandy, Priya; Russell, Claire; Forst, Anna-Lena; Sterner, Christina; [...]

    A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Ovid Technologies (Wolters Kluwer Health), 2022

    Published in: Journal of the American Society of Nephrology

  12. Klootwijk, Enriko D.; Reichold, Markus; Helip-Wooley, Amanda; Tolaymat, Asad; Broeker, Carsten; Robinette, Steven L.; Reinders, Joerg; Peindl, Dominika; Renner, Kathrin; Eberhart, Karin; Assmann, Nadine; Oefner, Peter J.; Dettmer, Katja; Sterner, Christina; Schroeder, Josef; Zorger, Niels; Witzgall, Ralph; Reinhold, Stephan W.; Stanescu, Horia C.; Bockenhauer, Detlef; Jaureguiberry, Graciana; Courtneidge, Holly; Hall, Andrew M.; Wijeyesekera, Anisha D.; [...]

    Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Massachusetts Medical Society, 2014

    Published in: New England Journal of Medicine

  13. Reichold, Markus; Klootwijk, Enriko D.; Reinders, Joerg; Otto, Edgar A.; Milani, Mario; Broeker, Carsten; Laing, Chris; Wiesner, Julia; Devi, Sulochana; Zhou, Weibin; Schmitt, Roland; Tegtmeier, Ines; Sterner, Christina; Doellerer, Hannes; Renner, Kathrin; Oefner, Peter J.; Dettmer, Katja; Simbuerger, Johann M.; Witzgall, Ralph; Stanescu, Horia C.; Dumitriu, Simona; Iancu, Daniela; Patel, Vaksha; Mozere, Monika; [...]

    Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Ovid Technologies (Wolters Kluwer Health), 2018

    Published in: Journal of the American Society of Nephrology

  14. Jaureguiberry, Graciana; De la Dure-Molla, Muriel; Parry, David; Quentric, Mickael; Himmerkus, Nina; Koike, Toshiyasu; Poulter, James; Klootwijk, Enriko; Robinette, Steven L.; Howie, Alexander J.; Patel, Vaksha; Figueres, Marie-Lucile; Stanescu, Horia C.; Issler, Naomi; Nicholson, Jeremy K.; Bockenhauer, Detlef; Laing, Christopher; Walsh, Stephen B.; McCredie, David A.; Povey, Sue; Asselin, Audrey; Picard, Arnaud; Coulomb, Aurore; Medlar, Alan J.; [...]

    Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    S. Karger AG, 2013

    Published in: Nephron Physiology