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	1.	Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome. [electronic resource] by Carapito, Raphael Goldenberg, Alice Paul, Nicodème Pichot, Angélique David, Albert Hamel, Antoine Dumant-Forest, Clémentine Leroux, Julien Ory, Benjamin Isidor, Bertrand Bahram, Seiamak Producer: 20170711 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report. [electronic resource] by Marguet, Florent Laquerrière, Annie Goldenberg, Alice Guerrot, Anne-Marie Quenez, Olivier Flahaut, Philippe Vanhulle, Catherine Dumant-Forest, Clémentine Charbonnier, Françoise Vezain, Myriam Bekri, Soumeya Tournier, Isabelle Frébourg, Thierry Nicolas, Gaël Producer: 20170104 In: American journal of medical genetics. Part A vol. 170A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder. [electronic resource] by Lecoquierre, François Bonnevalle, Antoine Chadie, Alexandra Gayet, Claire Dumant-Forest, Clémentine Renaux-Petel, Mariette Leca, Jean-Baptiste Hazelzet, Tristan Brasseur-Daudruy, Marie Louillet, Ferielle Muraine, Marc Coutant, Sophie Quenez, Olivier Boland, Anne Deleuze, Jean-François Frebourg, Thierry Goldenberg, Alice Saugier-Veber, Pascale Guerrot, Anne-Marie Nicolas, Gaël Producer: 20200804 In: American journal of medical genetics. Part A vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study. [electronic resource] by Charbit-Henrion, Fabienne Parlato, Marianna Hanein, Sylvain Duclaux-Loras, Rémi Nowak, Jan Begue, Bernadette Rakotobe, Sabine Bruneau, Julie Fourrage, Cécile Alibeu, Olivier Rieux-Laucat, Frédéric Lévy, Eva Stolzenberg, Marie-Claude Mazerolles, Fabienne Latour, Sylvain Lenoir, Christelle Fischer, Alain Picard, Capucine Aloi, Marina Dias, Jorge Amil Hariz, Mongi Ben Bourrier, Anne Breuer, Christian Breton, Anne Bronsky, Jiri Buderus, Stephan Cananzi, Mara Coopman, Stéphanie Crémilleux, Clara Dabadie, Alain Dumant-Forest, Clémentine Gurkan, Odul Egritas Fabre, Alexandre Fischer, Aude Diaz, Marta German Gonzalez-Lama, Yago Goulet, Olivier Guariso, Graziella Gurcan, Neslihan Homan, Matjaz Hugot, Jean-Pierre Jeziorski, Eric Karanika, Evi Lachaux, Alain Lewindon, Peter Lima, Rosa Magro, Fernando Major, Janos Malamut, Georgia Mas, Emmanuel Mattyus, Istvan Mearin, Luisa M Melek, Jan Navas-Lopez, Victor Manuel Paerregaard, Anders Pelatan, Cecile Pigneur, Bénédicte Pais, Isabel Pinto Rebeuh, Julie Romano, Claudio Siala, Nadia Strisciuglio, Caterina Tempia-Caliera, Michela Tounian, Patrick Turner, Dan Urbonas, Vaidotas Willot, Stéphanie Ruemmele, Frank M Cerf-Bensussan, Nadine Producer: 20200406 In: Journal of Crohn's & colitis vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)