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  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

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    Basel: Karger, 23 February 2013

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

  2. 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

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    Wiley, 2021

    Published in: Physiological Reports

  4. Stubbs, Matthew J.; Coppo, Paul; Cheshire, Chris; Veyradier, Agnès; Dufek, Stephanie; Levine, Adam P.; Thomas, Mari; Patel, Vaksha; Connolly, John O.; Hubank, Michael; Benhamou, Ygal; Galicier, Lionel; Poullin, Pascale; Kleta, Robert; Gale, Daniel P.; Stanescu, Horia; Scully, Marie A.

    Identification of a novel genetic locus associated with immune-mediated thrombotic thrombocytopenic purpura

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    Ferrata Storti Foundation (Haematologica), 2021

    Published in: Haematologica

  5. Dufek, Stephanie; Cheshire, Chris; Levine, Adam P.; Trompeter, Richard S.; Issler, Naomi; Stubbs, Matthew; Mozere, Monika; Gupta, Sanjana; Klootwijk, Enriko; Patel, Vaksha; Hothi, Daljit; Waters, Aoife; Webb, Hazel; Tullus, Kjell; Jenkins, Lucy; Godinho, Lighta; Levtchenko, Elena; Wetzels, Jack; Knoers, Nine; Teeninga, Nynke; Nauta, Jeroen; Shalaby, Mohamed; Eldesoky, Sherif; Kari, Jameela A.; [...]

    Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome

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    Ovid Technologies (Wolters Kluwer Health), 2019

    Published in: Journal of the American Society of Nephrology

  6. 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

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    Ovid Technologies (Wolters Kluwer Health), 2022

    Published in: Journal of the American Society of Nephrology

  7. Cabezas, Oscar Rubio; Flanagan, Sarah E.; Stanescu, Horia; García-Martínez, Elena; Caswell, Richard; Lango-Allen, Hana; Antón-Gamero, Montserrat; Argente, Jesús; Bussell, Anna-Marie; Brandli, Andre; Cheshire, Chris; Crowne, Elizabeth; Dumitriu, Simona; Drynda, Robert; Hamilton-Shield, Julian P; Hayes, Wesley; Hofherr, Alexis; Iancu, Daniela; Issler, Naomi; Jefferies, Craig; Jones, Peter; Johnson, Matthew; Kesselheim, Anne; Klootwijk, Enriko; [...]

    Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2

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    Ovid Technologies (Wolters Kluwer Health), 2017

    Published in: Journal of the American Society of Nephrology

  8. 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

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    Ovid Technologies (Wolters Kluwer Health), 2018

    Published in: Journal of the American Society of Nephrology

  9. 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

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    S. Karger AG, 2013

    Published in: Nephron Physiology