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	1.	Natural History of Adult Patients with GM2 Gangliosidosis. [electronic resource] by Masingue, Marion Dufour, Louis Lenglet, Timothée Saleille, Lisa Goizet, Cyril Ayrignac, Xavier Ory-Magne, Fabienne Barth, Magali Lamari, Foudil Mandia, Daniele Caillaud, Catherine Nadjar, Yann Producer: 20200727 In: Annals of neurology vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis. [electronic resource] by Mary, Laura Piton, Amélie Schaefer, Elise Mattioli, Francesca Nourisson, Elsa Feger, Claire Redin, Claire Barth, Magali El Chehadeh, Salima Colin, Estelle Coubes, Christine Faivre, Laurence Flori, Elisabeth Geneviève, David Capri, Yline Perrin, Laurence Fabre-Teste, Jennifer Timbolschi, Dana Verloes, Alain Olaso, Robert Boland, Anne Deleuze, Jean-François Mandel, Jean-Louis Gerard, Bénédicte Giurgea, Irina Producer: 20190221 In: European journal of human genetics : EJHG vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. [electronic resource] by Schiff, Manuel Roda, Céline Monin, Marie-Lorraine Arion, Alina Barth, Magali Bednarek, Nathalie Bidet, Maud Bloch, Catherine Boddaert, Nathalie Borgel, Delphine Brassier, Anaïs Brice, Alexis Bruneel, Arnaud Buissonnière, Roger Chabrol, Brigitte Chevalier, Marie-Chantal Cormier-Daire, Valérie De Barace, Claire De Maistre, Emmanuel De Saint-Martin, Anne Dorison, Nathalie Drouin-Garraud, Valérie Dupré, Thierry Echenne, Bernard Edery, Patrick Feillet, François Fontan, Isabelle Francannet, Christine Labarthe, François Gitiaux, Cyril Héron, Delphine Hully, Marie Lamoureux, Sylvie Martin-Coignard, Dominique Mignot, Cyril Morin, Gilles Pascreau, Tiffany Pincemaille, Olivier Polak, Michel Roubertie, Agathe Thauvin-Robinet, Christel Toutain, Annick Viot, Géraldine Vuillaumier-Barrot, Sandrine Seta, Nathalie De Lonlay, Pascale Producer: 20180703 In: Journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)