Sökresultat - M. Mathieu‐Dramard

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  1. 1
    Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

    Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia av Nicolas Chassaing, Alexandre Causse, Adeline Vigouroux, Andrée Delahaye‐Duriez, Jean‐Luc Alessandri, Odile Boespflug‐Tanguy, Odile Boute‐Bénéjean, Hélène Dollfus, Bénédicte Duban‐Bedu, Brigitte Gilbert‐Dussardier, Fabienne Giuliano, M. Gonzalés, Muriel Holder‐Espinasse, Bertrand Isidor, M. Jacquemont, Didier Lacombe, Dominique Martin–Coignard, M. Mathieu‐Dramard, Sylvie Odent, Olivier Picone, L Pinson, Chloé Quēlin, Sabine Sigaudy, Annick Toutain, Christel Thauvin-Robinet, Josseline Kaplan, Patrick Calvas

    Publicerad 2013
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  2. 2
    A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

    A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features av A-M Molin, Joris Andrieux, David A. Koolen, Valérie Malan, Massimo Carella, Laurence Colleaux, Valérie Cormier‐Daire, A. David, Nicole de Leeuw, B Delobel, Bénédicte Duban‐Bedu, Rita Fischetto, Frances Flinter, Søren K. Kjærgaard, Fernando Kok, Ana Cristina Victorino Krepischi, C. Le Caignec, Caroline Mackie Ogilvie, Sofia Maia, M. Mathieu‐Dramard, A Munnich, Orazio Palumbo, Francesco Papadia, Rolph Pfundt, William Reardon, Aline Receveur, Marlène Rio, L Ronsbro Darling, Carla Rosenberg, JAMILE DE OLIVEIRA SÁ, Louis Vallée, C. Vincent‐Delorme, Leopoldo Zelante, M.-L. Bondeson, Göran Annerén

    Publicerad 2011
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  3. 3
    Clinical reappraisal of <scp>SHORT</scp> syndrome with <i><scp>PIK3R1</scp></i> mutations: toward recommendation for molecular testing and management

    Clinical reappraisal of <scp>SHORT</scp> syndrome with <i><scp>PIK3R1</scp></i> mutations: toward recommendation for molecular testing and management av Mayra Mejía, David A. Dyment, Jørn V. Sagen, Judith St‐Onge, Ute Moog, Brian Hon‐Yin Chung, Sophy Mo, Sahar Mansour, A. Albanese, S. Garcia, David Martin, Ainhoa Abad López, Tor Claudi, Rainer König, S.M. White, S.L. Sawyer, J.A. Bernstein, Lauren Slattery, Rebekah Jobling, G. Yoon, Cynthia J. Curry, M. Le Merrer, Bernard Le Luyer, D. Héron, M. Mathieu‐Dramard, Pierre Bitoun, S. Odent, Jeanne Amiel, Paul Kuentz, J. Thevenon, Marie-Alice Laville, Yves Reznik, C. Fagour, M.L. Nunès, D. Delesalle, Sylvie Manouvrier, Olivier Lascols, Frédéric Huet, Christine Binquet, Laurence Faivre, J Rivière, Corinne Vigouroux, Pål R. Njølstad, A. Micheil Innes, Christel Thauvin-Robinet

    Publicerad 2015
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  4. 4
    A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

    A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 av Robin Walters, Sébastien Jacquemont, Armand Valsesia, Adam J. de Smith, Danielle Martinet, Johanna C. Andersson‐Assarsson, Mario Falchi, Fei Chen, Joris Andrieux, Stéphane Lobbens, B Delobel, Fanny Stutzmann, Julia S. El-Sayed Moustafa, Jean-Claude Chèvre, Cécile Lecœur, Vincent Vatin, Sonia Bouquillon, Jessica L. Buxton, Odile Boute, Muriel Holder‐Espinasse, Jean‐Marie Cuisset, M. Lemaître, Anne‐Emmanuelle Ambresin, Andrea Brioschi, Muriel Gaillard, Vittorio Giusti, Florence Fellmann, Alessandra Ferrarini, Nouchine Hadjikhani, Dominique Campion, Audrey Guilmatre, Anna Goldenberg, Nadège Calmels, Jean‐Louis Mandel, Cédric Le Caignec, A. David, Bertrand Isidor, Marie‐Pierre Cordier, Sophie Dupuis‐Girod, Audrey Labalme, Damien Sanlaville, Mylène Béri‐Dexheimer, Philippe Jonveaux, Bruno Leheup, Katrin Õunap, Elena G. Bochukova, Elana Henning, Julia M. Keogh, Richard J. Ellis, K D MacDermot, Mieke M. van Haelst, C. Vincent‐Delorme, Ghislaine Plessis, Renaud Touraine, Anne Philippe, Valérie Malan, M. Mathieu‐Dramard, Jean Chiésa, Bettina Blaumeiser, R. Frank Kooy, Robert Caïazzo, Marie Pigeyre, Beverley Balkau, Robert Sladek, Sven Bergmann, Vincent Mooser, Dawn Waterworth, Alexandre Reymond, Péter Vollenweider, Gérard Waeber, Ants Kurg, Priit Palta, Tõnu Esko, Andres Metspalu, Mari Nelis, Paul Elliott, Anna‐Liisa Hartikainen, Mark I. McCarthy, L. Peltonen, Lena Carlsson, Peter Jacobson, Lars Sjöström, Ni Huang, Matthew E. Hurles, Stephen O’Rahilly, I. Sadaf Farooqi, Katrin Männik, Marjo‐Riitta Järvelin, François Pattou, Stephen Eyre, Andrew J. Walley, Lachlan Coin, Alexandra I. F. Blakemore, Philippe Froguel, J. Beckmann

    Publicerad 2010
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