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	1.	Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa channel opener molecule. [electronic resource] by Hébert, Betty Pietropaolo, Susanna Même, Sandra Laudier, Béatrice Laugeray, Anthony Doisne, Nicolas Quartier, Angélique Lefeuvre, Sandrine Got, Laurence Cahard, Dominique Laumonnier, Frédéric Crusio, Wim E Pichon, Jacques Menuet, Arnaud Perche, Olivier Briault, Sylvain Producer: 20150330 In: Orphanet journal of rare diseases vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome. [electronic resource] by Quartier, Angélique Poquet, Hélène Gilbert-Dussardier, Brigitte Rossi, Massimiliano Casteleyn, Anne-Sophie Portes, Vincent des Feger, Claire Nourisson, Elsa Kuentz, Paul Redin, Claire Thevenon, Julien Mosca-Boidron, Anne-Laure Callier, Patrick Muller, Jean Lesca, Gaetan Huet, Frédéric Geoffroy, Véronique El Chehadeh, Salima Jung, Matthieu Trojak, Benoit Le Gras, Stéphanie Lehalle, Daphné Jost, Bernard Maury, Stéphanie Masurel, Alice Edery, Patrick Thauvin-Robinet, Christel Gérard, Bénédicte Mandel, Jean-Louis Faivre, Laurence Piton, Amélie Producer: 20170807 In: European journal of human genetics : EJHG vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. [electronic resource] by Redin, Claire Gérard, Bénédicte Lauer, Julia Herenger, Yvan Muller, Jean Quartier, Angélique Masurel-Paulet, Alice Willems, Marjolaine Lesca, Gaétan El-Chehadeh, Salima Le Gras, Stéphanie Vicaire, Serge Philipps, Muriel Dumas, Michaël Geoffroy, Véronique Feger, Claire Haumesser, Nicolas Alembik, Yves Barth, Magalie Bonneau, Dominique Colin, Estelle Dollfus, Hélène Doray, Bérénice Delrue, Marie-Ange Drouin-Garraud, Valérie Flori, Elisabeth Fradin, Mélanie Francannet, Christine Goldenberg, Alice Lumbroso, Serge Mathieu-Dramard, Michèle Martin-Coignard, Dominique Lacombe, Didier Morin, Gilles Polge, Anne Sukno, Sylvie Thauvin-Robinet, Christel Thevenon, Julien Doco-Fenzy, Martine Genevieve, David Sarda, Pierre Edery, Patrick Isidor, Bertrand Jost, Bernard Olivier-Faivre, Laurence Mandel, Jean-Louis Piton, Amélie Producer: 20150619 In: Journal of medical genetics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. [electronic resource] by Marsh, Ashley P L Heron, Delphine Edwards, Timothy J Quartier, Angélique Galea, Charles Nava, Caroline Rastetter, Agnès Moutard, Marie-Laure Anderson, Vicki Bitoun, Pierre Bunt, Jens Faudet, Anne Garel, Catherine Gillies, Greta Gobius, Ilan Guegan, Justine Heide, Solveig Keren, Boris Lesne, Fabien Lukic, Vesna Mandelstam, Simone A McGillivray, George McIlroy, Alissandra Méneret, Aurélie Mignot, Cyril Morcom, Laura R Odent, Sylvie Paolino, Annalisa Pope, Kate Riant, Florence Robinson, Gail A Spencer-Smith, Megan Srour, Myriam Stephenson, Sarah E M Tankard, Rick Trouillard, Oriane Welniarz, Quentin Wood, Amanda Brice, Alexis Rouleau, Guy Attié-Bitach, Tania Delatycki, Martin B Mandel, Jean-Louis Amor, David J Roze, Emmanuel Piton, Amélie Bahlo, Melanie Billette de Villemeur, Thierry Sherr, Elliott H Leventer, Richard J Richards, Linda J Lockhart, Paul J Depienne, Christel Producer: 20170905 In: Nature genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)