Zoekresultaten - Géraldine Goudefroye

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  1. 1
    Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

    Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development door Damien Sanlaville, Heather Etchevers, Marie Gonzalès, Jéléna Martinovic, Mathieu Clément‐Ziza, Anne‐Lise Delezoide, M. C. Aubry, Anna Pelet, Sophie Chemouny, Corinne Cruaud, Sophie Audollent, Chantal Esculpavit, Géraldine Goudefroye, Catherine Ozilou, C. Fredouille, Nicole Joyé, N. Morichon-Delvallez, Yves Dumez, Jean Weissenbach, Arnold Münnich, Jeanne Amiel, Férechté Encha‐Razavi, Stanislas Lyonnet, Michel Vekemans, Tania Attié‐Bitach

    Gepubliceerd in 2005
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  2. 2
    Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome

    Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome door Houda Karmous‐Benailly, Jéléna Martinovic, Marie‐Claire Gubler, Yoann Sirot, Laure Clech, Catherine Ozilou, Joëlle Augé, Nora Brahimi, Heather Etchevers, Eric Detrait, Chantal Esculpavit, Sophie Audollent, Géraldine Goudefroye, Marie Gonzalès, Julia Tantau, Philippe Loget, Madeleine Joubert, Dominique Gaillard, Corinne Jeanne‐Pasquier, Anne‐Lise Delezoide, Marie-Odile Peter, Ghislaine Plessis, Brigitte Simon‐Bouy, Hélène Dollfus, Martine Le Merrer, Arnold Münnich, Férechté Encha‐Razavi, Michel Vekemans, Tania Attié‐Bitach

    Gepubliceerd in 2005
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  3. 3
    Delineation of<i>EFTUD2</i>Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients

    Delineation of<i>EFTUD2</i>Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients door Daphné Lehalle, Christopher T. Gordon, Myriam Oufadem, Géraldine Goudefroye, Lucile Boutaud, Jean‐Luc Alessandri, Neus Baena, Geneviève Baujat, Clarisse Baumann, Odile Boute‐Bénéjean, Roseline Caumes, Christine Decaestecker, Dominique Gaillard, Alice Goldenberg, Marie Gonzalès, Muriel Holder‐Espinasse, Marie‐Line Jacquemont, Didier Lacombe, Sylvie Manouvrier‐Hanu, Sandrine Marlin, Michèle Mathieu‐Dramard, G Morin, Laurent Pasquier, Florence Petit, Marlène Rio, Robert Śmigiel, Christel Thauvin‐Robinet, Alexandre Vasiljevic, Alain Verloès, Valérie Malan, Arnold Münnich, Loïc de Pontual, Michel Vekemans, Stanislas Lyonnet, Tania Attié‐Bitach, Jeanne Amiel

    Gepubliceerd in 2014
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  4. 4
    New insights into genotype–phenotype correlation for GLI3 mutations

    New insights into genotype–phenotype correlation for GLI3 mutations door Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, Martine Le Merrer, Géraldine Goudefroye, Anne‐Lise Delezoide, Chloé Quēlin, Sylvie Manouvrier, Geneviève Baujat, Mélanie Fradin, Laurent Pasquier, André Mégarbané, Laurence Faivre, Clarisse Baumann, Sheela Nampoothiri, J. Roume, Bertrand Isidor, Didier Lacombe, Marie‐Ange Delrue, Sandra Mercier, Nicole Philip, Élise Schaefer, Muriel Holder, Amanda Krause, Fanny Laffargue, Martine Sinico, Daniel Amram, Gwenaëlle André, Alain Liquier, Massimiliano Rossi, Jeanne Amiel, Fabienne Giuliano, Odile Boute, Anne Dieux‐Coëslier, Marie‐Line Jacquemont, Alexandra Afenjar, Lionel Van Maldergem, Marylin Lackmy-Port-Lis, Catherine Vincent- Delorme, Marie-Liesse Chauvet, Valérie Cormier‐Daire, Louise Devisme, David Geneviève, Arnold Münnich, Géraldine Viot, O Raoul, Serge Romana, Marie Gonzalès, Férechté Encha‐Razavi, Sylvie Odent, Michel Vekemans, Tania Attié‐Bitach

    Gepubliceerd in 2014
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