Risultati della ricerca - H.P.N. Safatle

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  1. 1
    Complex Phenotype Associated with 17q21.31 Microdeletion

    Complex Phenotype Associated with 17q21.31 Microdeletion di Halinna Dornelles-Wawruk, Aline Pic‐Taylor, Carla Rosenberg, Ana Cristina Victorino Krepischi, H.P.N. Safatle, Ilaria Ferrari, Juliana F. Mazzeu

    Pubblicazione 2013
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  2. 2
    Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

    Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations di Graciana Jaureguiberry, Muriel De La Dure‐Molla, David Parry, Mickaël Quentric, Nina Himmerkus, Toshiyasu Koike, James A. Poulter, Enriko Klootwijk, Steven L. Robinette, Alexander J. Howie, Vaksha Patel, Marie-Lucile Figueres, Horia Stanescu, Naomi Issler, Jeremy K. Nicholson, Detlef Böckenhauer, Christopher Laing, Stephen B. Walsh, David A. McCredie, Sue Povey, Audrey Asselin, Arnaud Picard, Aurore Coulomb, Alan Medlar, Isabelle Bailleul‐Forestier, Alain Verloès, Cédric Le Caignec, G. Roussey, J. Guiol, Bertrand Isidor, Clare V. Logan, Richard F. Shore, Colin A. Johnson, C.F. Inglehearn, Suhaila Al‐Bahlani, Matthieu Schmittbuhl, François Clauss, Mathilde Huckert, Virginie Laugel, Emmanuelle Ginglinger, Sandra Pajarola, Giuseppina Spartà, Deborah Bartholdi, Anita Rauch, Marie-Claude Addor, Paulo Márcio Yamaguti, H.P.N. Safatle, Ana Carolina Acevedo, Hercílio Martelli‐Júnior, Pedro E. dos Santos Netos, Ricardo D. Coletta, Sandra Gruessel, Carolin Sandmann, Denise Ruehmann, Craig B. Langman, Steven J. Scheinman, Didem Özdemır, Thomas C. Hart, P. Suzanne Hart, Ute Neugebauer, Eberhard Schlatter, Pascal Houillier, William A. Gahl, Miikka Vikkula, Agnès Bloch‐Zupan, Markus Bleich, Hiroshi Kitagawa, Robert J. Unwin, Alan J. Mighell, Ariane Berdal, Robert Kleta

    Pubblicazione 2013
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