Výsledky vyhledávání - Julia Lauer

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  1. 1
    First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations

    First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations Autor Rejeb, Imen, Jilani, Houweyda, Elaribi, Yasmina, Hizem, Syrine, Hila, Lamia, Zillahrdt, Julia Lauer, Chelly, Jamel, Benjemaa, Lamia

    Vydáno 2017
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  2. 2
    20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

    20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition Autor Amélie Piton, Hélène Poquet, Claire Redin, Alice Masurel, Julia Lauer, Jean Muller, Julien Thévenon, Yvan Herenger, Sophie Chancenotte, Marlène Bonnet, Jean‐Michel Pinoit, Frédéric Huet, Christel Thauvin‐Robinet, Anne-Sophie Jaeger, Stéphanie Le Gras, Bernard Jost, Bénédicte Gérard, Katell Peoc’h, Jean‐Marie Launay, Laurence Faivre, Jean‐Louis Mandel

    Vydáno 2013
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    Artigo
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  3. 3
    Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

    Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly Autor Élise Schaefer, Ariane Zaloszyc, Julia Lauer, M. Durand, Fanny Stutzmann, Y. Perdomo-Trujillo, Claire Redin, V. Bennouna Greene, Annick Toutain, Laurence Perrin, Marion Gérard, Sophie Caillard, Xiaoshu Bei, Richard A. Lewis, D Christmann, J. Letsch, M. Kribs, Catherine Schmidt‐Mutter, Jean Muller, Corinne Stoetzel, Michel Fischbach, Vincent Marion, Nicholas Katsanis, Hélène Dollfus

    Vydáno 2010
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  4. 4
    Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

    Mosaic parental germline mutations causing recurrent forms of malformations of cortical development Autor Zillhardt, Julia Lauer, Poirier, Karine, Broix, Loïc, Lebrun, Nicolas, Elmorjani, Adrienne, Martinovic, Jelena, Saillour, Yoann, Muraca, Giuseppe, Nectoux, Juliette, Bessieres, Bettina, Fallet-Bianco, Catherine, Lyonnet, Stanislas, Dulac, Olivier, Odent, Sylvie, Rejeb, Imen, Jemaa, Lamia Ben, Rivier, Francois, Pinson, Lucile, Geneviève, David, Musizzano, Yuri, Bigi, Nicole, Leboucq, Nicolas, Giuliano, Fabienne, Philip, Nicole, Vilain, Catheline, Van Bogaert, Patrick, Maurey, Hélène, Beldjord, Cherif, Artiguenave, François, Boland, Anne, Olaso, Robert, Masson, Cécile, Nitschké, Patrick, Deleuze, Jean-François, Bahi-Buisson, Nadia, Chelly, Jamel

    Vydáno 2016
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  5. 5
    Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

    Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing Autor Claire Redin, Bénédicte Gérard, Julia Lauer, Yvan Herenger, Jean Muller, Angélique Quartier, Alice Masurel‐Paulet, Marjolaine Willems, Gaëtan Lesca, Salima El-Chehadeh, Stéphanie Le Gras, Serge Vicaire, Muriel Philipps, Michaël Dumas, Véronique Geoffroy, Claire Feger, Nicolas Haumesser, Yves Alembik, Magalie Barth, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Bérénice Doray, Marie‐Ange Delrue, Valérie Drouin‐Garraud, Elisabeth Flori, Mélanie Fradin, Christine Francannet, Alice Goldenberg, Serge Lumbroso, Michèle Mathieu‐Dramard, Dominique Martin–Coignard, Didier Lacombe, Gilles Morin, Anne Polge, Sylvie Sukno, Christel Thauvin‐Robinet, Julien Thévenon, Martine Doco‐Fenzy, David Geneviève, Pierre Sarda, Patrick Edery, Bertrand Isidor, Bernard Jost, Laurence Olivier-Faivre, Jean‐Louis Mandel, Amélie Piton

    Vydáno 2014
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