Resultados da busca - Isabelle Bailleul‐Forestier

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  1. 1
    Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

    Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta por Mathilde Huckert, Corinne Stoetzel, Supawich Morkmued, Virginie Laugel-Haushalter, Véronique Geoffroy, Jean Muller, François Clauss, Megana Prasad, Frédéric Obry, Jean Louis Raymond, Marzena Switala, Yves Alembik, S. Soskin, Éric Mathieu, Joseph Hemmerlé, Jean‐Luc Weickert, Branka Dabovic, Daniel B. Rifkin, Annelies Dheedene, Eveline Boudin, Oana Caluseriu, Marie‐Claude Cholette, Ross McLeod, Reynaldo Antequera, Marie-Paule Gellé, Jean-Louis Coeuriot, L. F. Jacquelin, Isabelle Bailleul‐Forestier, Marie‐Cécile Manière, Wim Van Hul, Débora Romeo Bertola, Pascal Dollé, Alain Verloès, Geert Mortier, Hélène Dollfus, Agnès Bloch‐Zupan

    Publicado em 2015
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  2. 2
    The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

    The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data por Sebastian Köhler, Sandra C. Doelken, Chris Mungall, Sebastian Bauer, Helen V. Firth, Isabelle Bailleul‐Forestier, Graeme Black, Danielle L. Brown, Michael Brudno, Jennifer Campbell, David Fitzpatrick, Janan T. Eppig, Andrew P. Jackson, Kathleen Freson, Marta Gîrdea, Ingo Helbig, Jane A. Hurst, Johanna Jähn, Laird G. Jackson, Anne M. Kelly, David H. Ledbetter, Sahar Mansour, Christa Lese Martin, Celia Moss, Andrew Mumford, Willem H. Ouwehand, Soo-Mi Park, Erin Rooney Riggs, Richard H. Scott, Sanjay M. Sisodiya, Steven Van Vooren, Ronald J. Wapner, Andrew O.M. Wilkie, Caroline F. Wright, Anneke T. Vulto‐van Silfhout, Nicole de Leeuw, Bert B.A. de Vries, Nicole L. Washingthon, Cynthia L. Smith, Monte Westerfield, Paul N. Schofield, Barbara J. Ruef, Georgios V. Gkoutos, Melissa Haendel, Damian Smedley, Suzanna Lewis, Peter N. Robinson

    Publicado em 2013
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  3. 3
    A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

    A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement por Megana Prasad, Véronique Geoffroy, Serge Vicaire, Bernard Jost, Michaël Dumas, Stéphanie Le Gras, Marzena Switala, Barbara Gasse, Virginie Laugel-Haushalter, Marie Paschaki, Bruno Leheup, D Droz, Amelie Dalstein, Adeline Loing, Bruno Grollemund, Michèle Muller‐Bolla, Séréna Lopez-Cazaux, Maryline Minoux, Sophie Jung, Frédéric Obry, Vincent Vogt, Jean‐Luc Davideau, Tiphaine Davit‐Béal, Anne-Sophie Kaiser, Ute Moog, Béatrice Richard, Jean-Jacques Morrier, Jean‐Pierre Duprez, Sylvie Odent, Isabelle Bailleul‐Forestier, M. Rousset, Laure Merametdijan, Annick Toutain, Clara Joseph, Fabienne Giuliano, Jean-Christophe Dahlet, Aymeric Courval, Mustapha El Alloussi, Samir Laouina, S. Soskin, Nathalie Guffon, Anne Dieux, Bérénice Doray, Stephanie Feierabend, Emmanuelle Ginglinger, Benjamin Fournier, Muriel De La Dure‐Molla, Yves Alembik, C Tardieu, François Clauss, Ariane Berdal, Corinne Stoetzel, M.C. Manière, Hélène Dollfus, Agnès Bloch‐Zupan

    Publicado em 2015
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  4. 4
    Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

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

    Publicado em 2013
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