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	1.	New CACNA1A gene mutation in a case of familial hemiplegic migraine with status epilepticus. [electronic resource] by Beauvais, Katell Cavé-Riant, Florence De Barace, Claire Tardieu, Marc Tournier-Lasserve, Elisabeth Furby, Alain Producer: 20040930 In: European neurology vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. [electronic resource] by Mercier, Sandra Toutain, Annick Toussaint, Aurélie Raynaud, Martine de Barace, Claire Marcorelles, Pascale Pasquier, Laurent Blayau, Martine Espil, Caroline Parent, Philippe Journel, Hubert Lazaro, Leila Andoni Urtizberea, Jon Moerman, Alexandre Faivre, Laurence Eymard, Bruno Maincent, Kim Gherardi, Romain Chaigne, Denys Ben Yaou, Rabah Leturcq, France Chelly, Jamel Desguerre, Isabelle Producer: 20131029 In: European journal of human genetics : EJHG vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype. [electronic resource] by Monin, Marie-Lorraine Mignot, Cyril De Lonlay, Pascale Héron, Bénédicte Masurel, Alice Mathieu-Dramard, Michèle Lenaerts, Catherine Thauvin, Christel Gérard, Marion Roze, Emmanuel Jacquette, Aurélia Charles, Perrine de Baracé, Claire Drouin-Garraud, Valérie Khau Van Kien, Philippe Cormier-Daire, Valérie Mayer, Michèle Ogier, Hélène Brice, Alexis Seta, Nathalie Héron, Delphine Producer: 20150720 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)
	4.	Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France. [electronic resource] by Chipaux, Mathilde Szurhaj, William Vercueil, Laurent Milh, Mathieu Villeneuve, Nathalie Cances, Claude Auvin, Stéphane Chassagnon, Serge Napuri, Sylvia Allaire, Catherine Derambure, Philippe Marchal, Cécile Caubel, Isabelle Ricard-Mousnier, Brigitte N'Guyen The Tich, Sylvie Pinard, Jean-Marc Bahi-Buisson, Nadia de Baracé, Claire Kahane, Philippe Gautier, Agnès Hamelin, Sophie Coste-Zeitoun, Delphine Rosenberg, Sarah-Dominique Clerson, Pierre Nabbout, Rima Kuchenbuch, Mathieu Picot, Marie-Christine Kaminska, Anna Producer: 20170531 In: Epilepsia vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review. [electronic resource] by El Khattabi, Laïla Jaillard, Sylvie Andrieux, Joris Pasquier, Laurent Perrin, Laurence Capri, Yline Benmansour, Abdelmadjid Toutain, Annick Marcorelles, Pascale Vincent-Delorme, Catherine Journel, Hubert Henry, Catherine De Barace, Claire Devisme, Louise Dubourg, Christèle Demurger, Florence Lucas, Josette Belaud-Rotureau, Marc-Antoine Amiel, Jeanne Malan, Valérie De Blois, Marie-Christine De Pontual, Loïc Lebbar, Aziza Le Dû, Nathalie Germain, Dominique P Pinard, Jean-Marc Pipiras, Eva Tabet, Anne-Claude Aboura, Azzedine Verloes, Alain Producer: 20160219 In: American journal of medical genetics. Part A vol. 167 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	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)