Rezultati - Brigitte Simon‐Bouy

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  1. 1
    Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation

    Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation od Étienne Mornet, A. Taillandier, Christelle Domingues, Annika Dufour, Emmanuelle Benaloun, Nicole Lavaud, Fabienne Wallon, Nathalie Rousseau, Carole Charle, Mihelaiti Guberto, Christine Muti, Brigitte Simon‐Bouy

    Izdano 2020
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  2. 2
    Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia

    Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia od Étienne Mornet, A. Taillandier, S Peyramaure, Fiona Kaper, Françoise Müller, Rolf E. Brenner, P Bussière, Peter Freisinger, J. Godard, M. Le Merrer, J.F. Oury, H Plauchu, Roberta Puddu, Rival Jm, Andrea Superti‐Furga, R. Touraine, JL Serre, Brigitte Simon‐Bouy

    Izdano 1998
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  3. 3
    Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing

    Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing od A. Taillandier, Christelle Domingues, Clémence De Cazanove, Valérie Porquet‐Bordes, Sophie Monnot, Tina Kiffer-Moreira, Agnès Rothenbuhler, Pascal Guggenbuhl, Catherine Cormier, Geneviève Baujat, Françoise Debiais, Yline Capri, Martine Cohen‐Solal, P. Parent, Jean Chiésa, Anne Dieux, Florence Petit, J. Roume, Monica Isnard, Valérie Cormier‐Daire, Agnès Linglart, José Luís Millán, Jean‐Pierre Salles, Christine Muti, Brigitte Simon‐Bouy, Étienne Mornet

    Izdano 2015
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  4. 4
    Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome

    Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome od 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

    Izdano 2005
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  5. 5
    The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

    The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening od Christel Thauvin‐Robinet, À. Munck, Frédéric Huet, Emmanuelle Génin, Gil Bellis, Élodie Gautier, M-P Audrezet, Claude Férec, G. Lalau, M. des Georges, M. Claustres, Thierry Bienvenu, Bénédicte Gérard, Pierre Boisseau, Faïza Cabet-Bey, D Feldmann, Christine Clavel, Éric Bieth, A. Iron, Brigitte Simon‐Bouy, C Costa, R.A. Medina López, Julie Leclerc, D. Hubert, R. Nové-Josserand, Isabelle Sermet‐Gaudelus, G. Rault, J Flori, Sabine Léroy, Nathalie Wizla, G. Bellon, A. Haloun, S. Bui, G. Dacremont, Harriet Corvol, Albrecht M. Clement, Elise Houssin, Christine Binquet, Claire Bonithon‐Kopp, C. Alberti-Boulmé, Michael A. Morris, Laurence Faivre, M. Goossens, M. Roussey

    Izdano 2009
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  6. 6
    X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

    X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes od Hao Hu, Stefan A. Haas, Jamel Chelly, Hilde Van Esch, Martine Raynaud, Arjan P.M. de Brouwer, Stefanie Weinert, Guy Froyen, Suzanna G.M. Frints, Frédéric Laumonnier, Tomasz Żemojtel, Michael I. Love, Hugues Richard, A-K Emde, Melanie Bienek, Corinna Jensen, M Hambrock, Utz Fischer, Claudia Langnick, Mirjam Feldkamp, W.M. Wissink-Lindhout, Nicolas Lebrun, L. Castelnau, J. Rucci, Rodrick Montjean, Olivier Dorseuil, Pierre Billuart, Till Stuhlmann, M Shaw, Mark Corbett, Alison Gardner, Saffron A.G. Willis‐Owen, Chuan Tan, Kathryn Friend, Stefanie Belet, Kees E. P. van Roozendaal, M Jimenez-Pocquet, M.‐P. Moizard, Nathalie Ronce, Ren Sun, Sean O’Keeffe, R Chenna, Alena van Bömmel, Jonathan Göke, Anna Hackett, Michael Field, Louise Christie, Jackie Boyle, Eric Haan, John W. Nelson, Gillian Turner, Gareth Baynam, Gabriele Gillessen‐Kaesbach, Ulrich Müller, Daniela Steinberger, Bartłomiej Budny, Magdalena Badura‐Stronka, Anna Latos‐Bieleńska, Lilian Bomme Ousager, Peter Wieacker, Germán Rodríguez Criado, M.-L. Bondeson, Göran Annerén, Andreas Dufke, Monika Cohen, Lionel Van Maldergem, C. Vincent‐Delorme, Bernard Échenne, Brigitte Simon‐Bouy, Tjitske Kleefstra, Marjolein H. Willemsen, J-P. Fryns, Koenraad Devriendt, Reinhard Ullmann, Martin Vingron, Klaus Wrogemann, Thomas F. Wienker, Andreas Tzschach, Hans van Bokhoven, Jozef Gécz, Thomas J. Jentsch, W. Chen, H‐H Ropers, Vera M. Kalscheuer

    Izdano 2015
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