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

  4. El-Sayed, Walid; Parry, David A.; Shore, Roger C.; Ahmed, Mushtaq; Jafri, Hussain; Rashid, Yasmin; Al-Bahlani, Suhaila; Al Harasi, Sharifa; Kirkham, Jennifer; Inglehearn, Chris F.; Mighell, Alan J.

    Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

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

    Elsevier BV, 2009

    Published in: The American Journal of Human Genetics

  5. Nikolopoulos, Georgios; Smith, Claire E. L.; Poulter, James A.; Murillo, Gina; Silva, Sandra; Lamb, Teresa; Berry, Ian R.; Brown, Catriona J.; Day, Peter F.; Soldani, Francesca; Al‐Bahlani, Suhaila; Harris, Sarah A.; O'Connell, Mary J.; Inglehearn, Chris F.; Mighell, Alan J.

    Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

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

    Hindawi Limited, 2021

    Published in: Human Mutation

  6. Parry, David A.; Brookes, Steven J.; Logan, Clare V.; Poulter, James A.; El-Sayed, Walid; Al-Bahlani, Suhaila; Al Harasi, Sharifa; Sayed, Jihad; Raïf, El Mostafa; Shore, Roger C.; Dashash, Mayssoon; Barron, Martin; Morgan, Joanne E.; Carr, Ian M.; Taylor, Graham R.; Johnson, Colin A.; Aldred, Michael J.; Dixon, Michael J.; Wright, J. Tim; Kirkham, Jennifer; Inglehearn, Chris F.; Mighell, Alan J.

    Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

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

    Elsevier BV, 2012

    Published in: The American Journal of Human Genetics

  7. 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