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	1.	Absence of OLIG2 mutations in patients presenting with a severe Pelizaeus-Merzbacher-like leukodystrophy associated with motor neuron dysfunction. [electronic resource] by Bonnet-Dupeyron, Marie-Noelle Combes, Patricia Boespflug-Tanguy, Odile Vaurs-Barrière, Catherine Producer: 20080723 In: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 147B Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations. [electronic resource] by Bonnet-Dupeyron, Marie-Noëlle Combes, Patricia Santander, Paola Cailloux, Fabrice Boespflug-Tanguy, Odile Vaurs-Barrière, Catherine Producer: 20081013 In: Human mutation vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for a rapid first-trimester prenatal diagnosis. [electronic resource] by Goumy, Carole Bonnet-Dupeyron, Marie-Noëlle Cherasse, Yoan Laurichesse, Hélène Jaffray, Jean-Yves Lacroute, Gisèle Geneix, Aimé Lemery, Didier Vago, Philippe Producer: 20040722 In: Prenatal diagnosis vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1. [electronic resource] by Combes, Patricia Bonnet-Dupeyron, Marie-Noelle Gauthier-Barichard, Fernande Schiffmann, Raphael Bertini, Enrico Rodriguez, Diana Armour, John A L Boespflug-Tanguy, Odile Vaurs-Barrière, Catherine Producer: 20070327 In: Neurogenetics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Somatic MMR gene mutations as a cause for MSI-H sebaceous neoplasms in Muir-Torre syndrome-like patients. [electronic resource] by Joly, Marie-Odile Attignon, Valéry Saurin, Jean-Christophe Desseigne, Françoise Leroux, Dominique Martin-Denavit, Tanguy Giraud, Sophie Bonnet-Dupeyron, Marie-Noëlle Faivre, Laurence Auclair, Jessie Grand-Masson, Chloé Audoynaud, Carole Wang, Qing Producer: 20151125 In: Human mutation vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. [electronic resource] by Bertolotto, Corine Lesueur, Fabienne Giuliano, Sandy Strub, Thomas de Lichy, Mahaut Bille, Karine Dessen, Philippe d'Hayer, Benoit Mohamdi, Hamida Remenieras, Audrey Maubec, Eve de la Fouchardière, Arnaud Molinié, Vincent Vabres, Pierre Dalle, Stéphane Poulalhon, Nicolas Martin-Denavit, Tanguy Thomas, Luc Andry-Benzaquen, Pascale Dupin, Nicolas Boitier, Françoise Rossi, Annick Perrot, Jean-Luc Labeille, Bruno Robert, Caroline Escudier, Bernard Caron, Olivier Brugières, Laurence Saule, Simon Gardie, Betty Gad, Sophie Richard, Stéphane Couturier, Jérôme Teh, Bin Tean Ghiorzo, Paola Pastorino, Lorenza Puig, Susana Badenas, Celia Olsson, Hakan Ingvar, Christian Rouleau, Etienne Lidereau, Rosette Bahadoran, Philippe Vielh, Philippe Corda, Eve Blanché, Hélène Zelenika, Diana Galan, Pilar Aubin, François Bachollet, Bertrand Becuwe, Céline Berthet, Pascaline Bignon, Yves Jean Bonadona, Valérie Bonafe, Jean-Louis Bonnet-Dupeyron, Marie-Noëlle Cambazard, Fréderic Chevrant-Breton, Jacqueline Coupier, Isabelle Dalac, Sophie Demange, Liliane d'Incan, Michel Dugast, Catherine Faivre, Laurence Vincent-Fétita, Lynda Gauthier-Villars, Marion Gilbert, Brigitte Grange, Florent Grob, Jean-Jacques Humbert, Philippe Janin, Nicolas Joly, Pascal Kerob, Delphine Lasset, Christine Leroux, Dominique Levang, Julien Limacher, Jean-Marc Livideanu, Cristina Longy, Michel Lortholary, Alain Stoppa-Lyonnet, Dominique Mansard, Sandrine Mansuy, Ludovic Marrou, Karine Matéus, Christine Maugard, Christine Meyer, Nicolas Nogues, Catherine Souteyrand, Pierre Venat-Bouvet, Laurence Zattara, Hélène Chaudru, Valérie Lenoir, Gilbert M Lathrop, Mark Davidson, Irwin Avril, Marie-Françoise Demenais, Florence Ballotti, Robert Bressac-de Paillerets, Brigitte Producer: 20120223 In: Nature vol. 480 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)