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	1.	Functional characterization of putative novel splicing mutations in the cardiomyopathy-causing genes. [electronic resource] by Millat, Gilles Lafont, Estèle Nony, Séverine Rouvet, Isabelle Bozon, Dominique Producer: 20151001 In: DNA and cell biology vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Effect of duration and intensity of ganciclovir exposure on lymphoblastoid cell toxicity. [electronic resource] by Janoly-Dumenil, Audrey Rouvet, Isabelle Bleyzac, Nathalie Bertrand, Yves Aulagner, Gilles Zabot, Marie-Thérèse Producer: 20100405 In: Antiviral chemistry & chemotherapy vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	A pharmacodynamic model of ganciclovir antiviral effect and toxicity for lymphoblastoid cells suggests a new dosing regimen to treat cytomegalovirus infection. [electronic resource] by Janoly-Dumenil, Audrey Rouvet, Isabelle Bleyzac, Nathalie Morfin, Florence Zabot, Marie-Therese Tod, Michel Producer: 20121017 In: Antimicrobial agents and chemotherapy vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Epigenetic silencing of lysyl oxidase-like-1 through DNA hypermethylation in an autosomal recessive cutis laxa case. [electronic resource] by Debret, Romain Cenizo, Valérie Aimond, Géraldine André, Valérie Devillers, Martine Rouvet, Isabelle Mégarbané, André Damour, Odile Sommer, Pascal Producer: 20101116 In: The Journal of investigative dermatology vol. 130 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells. [electronic resource] by Lemonnier, Thomas Blanchard, Stéphane Toli, Diana Roy, Elise Bigou, Stéphanie Froissart, Roseline Rouvet, Isabelle Vitry, Sandrine Heard, Jean Michel Bohl, Delphine Producer: 20120117 In: Human molecular genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy. [electronic resource] by Echaniz-Laguna, Andoni Chassagne, Maïté Ceresuela, Jennifer Rouvet, Isabelle Padet, Sylvie Acquaviva, Cécile Nataf, Serge Vinzio, Stéphane Bozon, Dominique Mousson de Camaret, Bénédicte Producer: 20120511 In: Journal of medical genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. [electronic resource] by Echaniz-Laguna, Andoni Ghezzi, Daniele Chassagne, Maïté Mayençon, Martine Padet, Sylvie Melchionda, Laura Rouvet, Isabelle Lannes, Béatrice Bozon, Dominique Latour, Philippe Zeviani, Massimo Mousson de Camaret, Bénédicte Producer: 20131211 In: Neurology vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly. [electronic resource] by Zhang, Shu Pondarre, Corinne Pennarun, Gaelle Labussiere-Wallet, Helene Vera, Gabriella France, Benoit Chansel, Marie Rouvet, Isabelle Revy, Patrick Lopez, Bernard Soulier, Jean Bertrand, Pascale Callebaut, Isabelle de Villartay, Jean-Pierre Producer: 20170721 In: The Journal of experimental medicine vol. 213 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome. [electronic resource] by Mousson de Camaret, Bénédicte Chassagne, Maïté Mayençon, Martine Padet, Sylvie Crehalet, Hervé Clerc-Renaud, Pascale Rouvet, Isabelle Zabot, Marie-Thérèse Rivier, François Sarda, Pierre des Portes, Vincent Bozon, Dominique Producer: 20110328 In: Mitochondrion vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis. [electronic resource] by Paquay, Stéphanie Bourillon, Agnès Pichard, Samia Benoist, Jean-François de Lonlay, Pascale Dobbelaere, Dries Fouilhoux, Alain Guffon, Nathalie Rouvet, Isabelle Labarthe, François Mention, Karine Touati, Guy Valayannopoulos, Vassili Ogier de Baulny, Hélène Elmaleh-Bergès, Monique Acquaviva-Bourdain, Cécile Vianey-Saban, Christine Schiff, Manuel Producer: 20170824 In: Journal of inherited metabolic disease vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation. [electronic resource] by Grampa, Valentina Delous, Marion Zaidan, Mohamad Odye, Gweltas Thomas, Sophie Elkhartoufi, Nadia Filhol, Emilie Niel, Olivier Silbermann, Flora Lebreton, Corinne Collardeau-Frachon, Sophie Rouvet, Isabelle Alessandri, Jean-Luc Devisme, Louise Dieux-Coeslier, Anne Cordier, Marie-Pierre Capri, Yline Khung-Savatovsky, Suonavy Sigaudy, Sabine Salomon, Rémi Antignac, Corinne Gubler, Marie-Claire Benmerah, Alexandre Terzi, Fabiola Attié-Bitach, Tania Jeanpierre, Cécile Saunier, Sophie Producer: 20160809 In: PLoS genetics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus. [electronic resource] by Weill, Olivia Decramer, Stéphane Malcus, Christophe Kassai, Behrouz Rouvet, Isabelle Ginhoux, Tiphanie Crow, Yanick J Rieux-Laucat, Fredéric Soulas-Sprauel, Pauline Pagnier, Anne Koné-Paut, Isabelle Piram, Maryam Galeotti, Caroline Samaille, Charlotte Reumaux, Héloïse Lanteri, Aurélia Dubois, Sandrine Morell Lefebvre, Hélène Burtey, Stéphane Maurier, François Carbasse, Aurélia Lemelle, Irène Meinzer, Ulrich Despert, Véronique Flodrops, Hugues Fabien, Nicole Ranchin, Bruno Hachulla, Eric Bader-Meunier, Brigitte Belot, Alexandre Producer: 20180614 In: Joint bone spine vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. [electronic resource] by Belot, Alexandre Kasher, Paul R Trotter, Eleanor W Foray, Anne-Perrine Debaud, Anne-Laure Rice, Gillian I Szynkiewicz, Marcin Zabot, Marie-Therese Rouvet, Isabelle Bhaskar, Sanjeev S Daly, Sarah B Dickerson, Jonathan E Mayer, Josephine O'Sullivan, James Juillard, Laurent Urquhart, Jill E Fawdar, Shameem Marusiak, Anna A Stephenson, Natalie Waszkowycz, Bohdan W Beresford, Michael Biesecker, Leslie G C M Black, Graeme René, Céline Eliaou, Jean-François Fabien, Nicole Ranchin, Bruno Cochat, Pierre Gaffney, Patrick M Rozenberg, Flore Lebon, Pierre Malcus, Christophe Crow, Yanick J Brognard, John Bonnefoy, Nathalie Producer: 20131017 In: Arthritis and rheumatism vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity. [electronic resource] by Mathieu, Anne-Laure Verronese, Estelle Rice, Gillian I Fouyssac, Fanny Bertrand, Yves Picard, Capucine Chansel, Marie Walter, Jolan E Notarangelo, Luigi D Butte, Manish J Nadeau, Kari Christine Csomos, Krisztian Chen, David J Chen, Karin Delgado, Ana Rigal, Chantal Bardin, Christine Schuetz, Catharina Moshous, Despina Reumaux, Héloïse Plenat, François Phan, Alice Zabot, Marie-Thérèse Balme, Brigitte Viel, Sébastien Bienvenu, Jacques Cochat, Pierre van der Burg, Mirjam Caux, Christophe Kemp, E Helen Rouvet, Isabelle Malcus, Christophe Méritet, Jean-Francois Lim, Annick Crow, Yanick J Fabien, Nicole Ménétrier-Caux, Christine De Villartay, Jean-Pierre Walzer, Thierry Belot, Alexandre Producer: 20150812 In: The Journal of allergy and clinical immunology vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Influence of Nucleoshuttling of the ATM Protein in the Healthy Tissues Response to Radiation Therapy: Toward a Molecular Classification of Human Radiosensitivity. [electronic resource] by Granzotto, Adeline Benadjaoud, Mohamed Amine Vogin, Guillaume Devic, Clément Ferlazzo, Mélanie L Bodgi, Larry Pereira, Sandrine Sonzogni, Laurène Forcheron, Fabien Viau, Muriel Etaix, Aurélie Malek, Karim Mengue-Bindjeme, Laurence Escoffier, Clémence Rouvet, Isabelle Zabot, Marie-Thérèse Joubert, Aurélie Vincent, Anne Dalla Venezia, Nicole Bourguignon, Michel Canat, Edme-Philippe d'Hombres, Anne Thébaud, Estelle Orbach, Daniel Stoppa-Lyonnet, Dominique Radji, Abderraouf Doré, Eric Pointreau, Yoann Bourgier, Céline Leblond, Pierre Defachelles, Anne-Sophie Lervat, Cyril Guey, Stéphanie Feuvret, Loic Gilsoul, Françoise Berger, Claire Moncharmont, Coralie de Laroche, Guy Moreau-Claeys, Marie-Virginie Chavaudra, Nicole Combemale, Patrick Biston, Marie-Claude Malet, Claude Martel-Lafay, Isabelle Laude, Cécile Hau-Desbat, Ngoc-Hanh Ziouéche, Amira Tanguy, Ronan Sunyach, Marie-Pierre Racadot, Séverine Pommier, Pascal Claude, Line Baleydier, Frédéric Fleury, Bertrand de Crevoisier, Renaud Simon, Jean-Marc Verrelle, Pierre Peiffert, Didier Belkacemi, Yazid Bourhis, Jean Lartigau, Eric Carrie, Christian De Vathaire, Florent Eschwege, François Puisieux, Alain Lagrange, Jean-Léon Balosso, Jacques Foray, Nicolas Producer: 20160616 In: International journal of radiation oncology, biology, physics vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)