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  1. Kunz, Felix [Author]; Kayserili, Hülya [Author]; Midro, Alina [Author]; Silva, Deepthi de [Author]; Basnayake, Sriyani [Author]; Güven, Yeliz [Author]; Borys, Jan [Author]; Schanze, Denny [Author]; Stellzig-Eisenhauer, Angelika [Author]; Bloch-Zupan, Agnès [Author]; Zenker, Martin [Author]

    Characteristic dental pattern with hypodontia and short roots in Fraser syndrome

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    2020

    Published in: American journal of medical genetics / A ; 182(2020), 7, Seite 1681-1689

  2. Wehrle, Anika [Author]; Witkos, Tomasz M. [Author]; Unger, Sheila [Author]; Schneider, Judith [Author]; Follit, John A. [Author]; Hermann, Johannes [Author]; Welting, Tim [Author]; Fano, Virginia [Author]; Hietala, Marja [Author]; Vatanavicharn, Nithiwat [Author]; Schoner, Katharina [Author]; Spranger, Jürgen W. [Author]; Schmidts, Miriam [Author]; Zabel, Bernhard [Author]; Pazour, Gregory J. [Author]; Bloch-Zupan, Agnès [Author]; Nishimura, Gen [Author]; Superti-Furga, Andrea [Author]; Lowe, Martin [Author]; Lausch, Ekkehart [Author]

    Hypomorphic mutations of TRIP11 cause dontochondrodysplasia

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    Ann Arbor, Michigan: JCI Insight, 2019

    Published in: JCI insight ; 4, 3 (2019), e124701$z2379-3708

  4. 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

  6. Bloch-Zupan, Agnès; Goodman, Jane R

    Otodental syndrome

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    Springer Science and Business Media LLC, 2006

    Published in: Orphanet Journal of Rare Diseases

  7. Crawford, Peter JM; Aldred, Michael; Bloch-Zupan, Agnes

    Amelogenesis imperfecta

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    Springer Science and Business Media LLC, 2007

    Published in: Orphanet Journal of Rare Diseases

  11. Laugel-Haushalter, Virginie; Paschaki, Marie; Thibault-Carpentier, Christelle; Dembelé, Doulaye; Dollé, Pascal; Bloch-Zupan, Agnès

    Molars and incisors: show your microarray IDs

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    Springer Science and Business Media LLC, 2013

    Published in: BMC Research Notes