檢索結果 - Bénédicte Demeer

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  1. 1
    Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes

    Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes 由 M. H. Basha, Bénédicte Demeer, Nicole Revençu, Raphaël Helaers, Stéphanie Theys, Sami Bou Saba, Odile Boute, Bernard Devauchelle, Geneviève François, Bénédicte Bayet, Miikka Vikkula

    出版 2018
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  2. 2
    ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

    ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia 由 Lucas Fares‐Taie, S. Gerber, Nicolas Chassaing, Jill Clayton‐Smith, Sylvain Hanein, Eduardo Silva, Margaux Serey, Valérie Serre, Xavier Gérard, Clarisse Baumann, Ghislaine Plessis, Bénédicte Demeer, Lionel Brétillon, Christine Bole, Patrick Nitschké, Arnold Münnich, Stanislas Lyonnet, Patrick Calvas, Josseline Kaplan, Nicola Ragge, Jean‐Michel Rozet

    出版 2013
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  3. 3
    Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

    Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences 由 Solveig Heide, Sandra Chantot‐Bastaraud, Boris Keren, Madeleine D. Harbison, Salah Azzi, Sylvie Rossignol, Caroline Michot, Marilyn Lackmy-Port Lys, Bénédicte Demeer, Claudine Heinrichs, Ron S. Newfield, Pierre Sarda, Lionel Van Maldergem, Véronique Trifard, Éloïse Giabicani, Jean‐Pierre Siffroi, Yves Le Bouc, Irène Netchine, Frédéric Brioude

    出版 2017
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  4. 4
    BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

    BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells 由 Davor Lessel, Christina Gehbauer, Nuria C. Bramswig, Caroline Schluth–Bolard, Sathish Venkataramanappa, Koen L.I. van Gassen, Maja Hempel, Tobias B. Haack, Anja Barešić, Casie A. Genetti, Mariana F.A. Funari, Ivana Lessel, Leonie Kuhlmann, Ruth Simon, Pentao Liu, Jonas Denecke, Alma Kuechler, Ineke de Kruijff, Moneef Shoukier, Monkol Lek, Thomas E. Mullen, Hermann-Josef Lüdecke, Antônio Marcondes Lerário, Robin Kobbe, Thorsten Krieger, Bénédicte Demeer, Marine Lebrun, Boris Keren, Caroline Nava, Julien Buratti, Alexandra Afenjar, Marwan Shinawi, María J. Guillen Sacoto, Julie Gauthier, Fadi F. Hamdan, Anne‐Marie Laberge, Philippe M. Campeau, Raymond J. Louie, Sara Cathey, Immo Prinz, Alexander A.L. Jorge, Paulien A. Terhal, Boris Lenhard, Dagmar Wieczorek, Tim M. Strom, Pankaj B. Agrawal, Stefan Britsch, Eva Tolosa, Christian Kubisch

    出版 2018
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  5. 5
    Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

    Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders 由 Caroline Schluth–Bolard, Flavie Diguet, Nicolas Chatron, Pierre‐Antoine Rollat‐Farnier, Claire Bardel, Alexandra Afenjar, Florence Amblard, Jeanne Amiel, Sophie Blesson, Patrick Callier, Yline Capri, Patrick Collignon, Marie‐Pierre Cordier, Christine Coubes, Bénédicte Demeer, Annabelle Chaussenot, Florence Démurger, Françoise Devillard, Martine Doco‐Fenzy, Céline Dupont, Jean‐Michel Dupont, Sophie Dupuis‐Girod, Laurence Faivre, Brigitte Gilbert‐Dussardier, Anne‐Marie Guerrot, Marine Houlier, Bertrand Isidor, Sylvie Jaillard, Géraldine Joly‐Helas, Valérie Kremer, Didier Lacombe, Cédric Le Caignec, Aziza Lebbar, Marine Lebrun, Gaëtan Lesca, James Lespinasse, Jonathan Lévy, Valérie Malan, Michèle Mathieu‐Dramard, Julie Masson, Alice Masurel‐Paulet, Cyril Mignot, Chantal Missirian, Fanny Morice‐Picard, Sébastien Moutton, Gwenaël Nadeau, Céline Pebrel‐Richard, Sylvie Odent, Véronique Paquis‐Flucklinger, Laurent Pasquier, Nicole Philip, Morgane Plutino, Linda Pons, Marie‐France Portnoï, Fabienne Prieur, Jacques Puechberty, Audrey Putoux, Marlène Rio, Caroline Rooryck, Massimiliano Rossi, Catherine Sarret, Véronique Satre, Jean‐Pierre Siffroi, Marianne Till, Renaud Touraine, Annick Toutain, Jérôme Toutain, Stéphanie Valence, Alain Verloès, Sandra Whalen, Patrick Edery, Anne‐Claude Tabet, Damien Sanlaville

    出版 2019
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  6. 6
    Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

    Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus 由 Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin Walters, Zoltán Kutalik, Danielle Martinet, Yiping Shen, Armand Valsesia, Noam D. Beckmann, Guðmar Þorleifsson, Marco Belfiore, Sonia Bouquillon, Dominique Campion, Nicole de Leeuw, Bert B.A. de Vries, Tõnu Esko, Bridget A. Fernandez, Fernando Fernández‐Aranda, José Manuel Fernández‐Real, Mónica Gratacòs, Audrey Guilmatre, Juliane Hoyer, Marjo‐Riitta Järvelin, R. Frank Kooy, Ants Kurg, Cédric Le Caignec, Katrin Männik, Orah S. Platt, Damien Sanlaville, Mieke M. van Haelst, Sergi Villatoro, Faida Walha, Bai-Lin Wu, Yongguo Yu, Azzedine Aboura, Marie‐Claude Addor, Yves Alembik, Stylianos E. Antonarakis, Benoı̂t Arveiler, Magalie Barth, Nathalie Bednarek, Frédérique Béna, Sven Bergmann, Mylène Béri, Laura Bernardini, Bettina Blaumeiser, Dominique Bonneau, Armand Bottani, Odile Boute, Han G. Brunner, Dorothée Cailley, Patrick Callier, Jean Chiésa, Jacqueline Chrast, Lachlan Coin, Charles Coutton, Jean‐Marie Cuisset, J. Cuvellier, Albert David, Bénédicte de Fréminville, Bruno Delobel, Marie‐Ange Delrue, Bénédicte Demeer, Dominique Descamps, Gérard Didelot, Klaus Dieterich, Vittoria Disciglio, Martine Doco‐Fenzy, Séverine Drunat, Bénédicte Duban‐Bedu, Christèle Dubourg, Julia S. El-Sayed Moustafa, Paul Elliott, Brigitte H. W. Faas, Laurence Faivre, Anne Faudet, Florence Fellmann, Alessandra Ferrarini, Richard Fisher, Elisabeth Flori, Lukas Forer, Dominique Gaillard, Marion Gérard, Christian Gieger, Stefania Gimelli, Giorgio Gimelli, Hans J. Grabe, Agnès Guichet, Olivier Guillin, Anna‐Liisa Hartikainen, Delphine Héron, Loyse Hippolyte, Muriel Holder, Georg Homuth, Bertrand Isidor, Sylvie Jaillard, Zdenek Jaros, Susana Jiménez‐Múrcia, Géraldine Joly Helas

    出版 2011
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