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	1.	Juvenile xanthogranuloma and nevus anemicus in the diagnosis of neurofibromatosis type 1. [electronic resource] by Ferrari, Faustine Masurel, Alice Olivier-Faivre, Laurence Vabres, Pierre Producer: 20140313 In: JAMA dermatology vol. 150 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene. [electronic resource] by Avila, Magali Kirchhoff, Maria Marle, Nathalie Hove, Hanna D Chouchane, Mondher Thauvin-Robinet, Christel Masurel, Alice Mosca-Boidron, Anne-Laure Callier, Patrick Mugneret, Francine Kjaergaard, Susanne Faivre, Laurence Producer: 20140214 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Angelman syndrome: a case series assessing neurological issues in adulthood. [electronic resource] by Giroud, Marie Daubail, Benoît Khayat, Norbert Chouchane, Mondher Berger, Eric Muzard, Emelyne Medeiros de Bustos, Elisabeth Thauvin-Robinet, Christel Faivre, Laurence Masurel, Alice Darmency-Stamboul, Véronique Huet, Frédéric Béjot, Yannick Giroud, Maurice Moulin, Thierry Producer: 20160418 In: European neurology vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition. [electronic resource] by Piton, Amélie Poquet, Hélène Redin, Claire Masurel, Alice Lauer, Julia Muller, Jean Thevenon, Julien Herenger, Yvan Chancenotte, Sophie Bonnet, Marlène Pinoit, Jean-Michel Huet, Frédéric Thauvin-Robinet, Christel Jaeger, Anne-Sophie Le Gras, Stéphanie Jost, Bernard Gérard, Bénédicte Peoc'h, Katell Launay, Jean-Marie Faivre, Laurence Mandel, Jean-Louis Producer: 20150206 In: European journal of human genetics : EJHG vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	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)
	6.	Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness. [electronic resource] by Jeannesson-Thivisol, Elise Feillet, François Chéry, Céline Perrin, Pascal Battaglia-Hsu, Shyue-Fang Herbeth, Bernard Cano, Aline Barth, Magalie Fouilhoux, Alain Mention, Karine Labarthe, François Arnoux, Jean-Baptiste Maillot, François Lenaerts, Catherine Dumesnil, Cécile Wagner, Kathy Terral, Daniel Broué, Pierre de Parscau, Loïc Gay, Claire Kuster, Alice Bédu, Antoine Besson, Gérard Lamireau, Delphine Odent, Sylvie Masurel, Alice Guéant, Jean-Louis Namour, Fares Producer: 20160706 In: Orphanet journal of rare diseases vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency. [electronic resource] by Saunier, Chloé Støve, Svein Isungset Popp, Bernt Gérard, Bénédicte Blenski, Marina AhMew, Nicholas de Bie, Charlotte Goldenberg, Paula Isidor, Bertrand Keren, Boris Leheup, Bruno Lampert, Laetitia Mignot, Cyril Tezcan, Kamer Mancini, Grazia M S Nava, Caroline Wasserstein, Melissa Bruel, Ange-Line Thevenon, Julien Masurel, Alice Duffourd, Yannis Kuentz, Paul Huet, Frédéric Rivière, Jean-Baptiste van Slegtenhorst, Marjon Faivre, Laurence Piton, Amélie Reis, André Arnesen, Thomas Thauvin-Robinet, Christel Zweier, Christiane Producer: 20171215 In: Human mutation vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping. [electronic resource] by Nambot, Sophie Masurel, Alice El Chehadeh, Salima Mosca-Boidron, Anne-Laure Thauvin-Robinet, Christel Lefebvre, Mathilde Marle, Nathalie Thevenon, Julien Perez-Martin, Stéphanie Dulieu, Véronique Huet, Frédéric Plessis, Ghislaine Andrieux, Joris Jouk, Pierre-Simon Billy-Lopez, Gipsy Coutton, Charles Morice-Picard, Fanny Delrue, Marie-Ange Heron, Delphine Rooryck, Caroline Goldenberg, Alice Saugier-Veber, Pascale Joly-Hélas, Géraldine Calenda, Patricia Kuentz, Paul Manouvrier-Hanu, Sylvie Dupuis-Girod, Sophie Callier, Patrick Faivre, Laurence Producer: 20170726 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)
	9.	Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome. [electronic resource] by Quartier, Angélique Poquet, Hélène Gilbert-Dussardier, Brigitte Rossi, Massimiliano Casteleyn, Anne-Sophie Portes, Vincent des Feger, Claire Nourisson, Elsa Kuentz, Paul Redin, Claire Thevenon, Julien Mosca-Boidron, Anne-Laure Callier, Patrick Muller, Jean Lesca, Gaetan Huet, Frédéric Geoffroy, Véronique El Chehadeh, Salima Jung, Matthieu Trojak, Benoit Le Gras, Stéphanie Lehalle, Daphné Jost, Bernard Maury, Stéphanie Masurel, Alice Edery, Patrick Thauvin-Robinet, Christel Gérard, Bénédicte Mandel, Jean-Louis Faivre, Laurence Piton, Amélie Producer: 20170807 In: European journal of human genetics : EJHG vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1. [electronic resource] by El Khattabi, Laïla Guimiot, Fabien Pipiras, Eva Andrieux, Joris Baumann, Clarisse Bouquillon, Sonia Delezoide, Anne-Lise Delobel, Bruno Demurger, Florence Dessuant, Hélène Drunat, Séverine Dubourg, Christelle Dupont, Céline Faivre, Laurence Holder-Espinasse, Muriel Jaillard, Sylvie Journel, Hubert Lyonnet, Stanislas Malan, Valérie Masurel, Alice Marle, Nathalie Missirian, Chantal Moerman, Alexandre Moncla, Anne Odent, Sylvie Palumbo, Orazio Palumbo, Pietro Ravel, Aimé Romana, Serge Tabet, Anne-Claude Valduga, Mylène Vermelle, Marie Carella, Massimo Dupont, Jean-Michel Verloes, Alain Benzacken, Brigitte Delahaye, Andrée Producer: 20160428 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. [electronic resource] by Barat-Houari, Mouna Dumont, Bruno Fabre, Aurélie Them, Frédéric Tm Alembik, Yves Alessandri, Jean-Luc Amiel, Jeanne Audebert, Séverine Baumann-Morel, Clarisse Blanchet, Patricia Bieth, Eric Brechard, Marie Busa, Tiffany Calvas, Patrick Capri, Yline Cartault, François Chassaing, Nicolas Ciorca, Vidrica Coubes, Christine David, Albert Delezoide, Anne-Lise Dupin-Deguine, Delphine El Chehadeh, Salima Faivre, Laurence Giuliano, Fabienne Goldenberg, Alice Isidor, Bertrand Jacquemont, Marie-Line Julia, Sophie Kaplan, Josseline Lacombe, Didier Lebrun, Marine Marlin, Sandrine Martin-Coignard, Dominique Martinovic, Jelena Masurel, Alice Melki, Judith Mozelle-Nivoix, Monique Nguyen, Karine Odent, Sylvie Philip, Nicole Pinson, Lucile Plessis, Ghislaine Quélin, Chloé Shaeffer, Elise Sigaudy, Sabine Thauvin, Christel Till, Marianne Touraine, Renaud Vigneron, Jacqueline Baujat, Geneviève Cormier-Daire, Valérie Le Merrer, Martine Geneviève, David Touitou, Isabelle Producer: 20170726 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)
	12.	Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients. [electronic resource] by El Chehadeh, Salima Faivre, Laurence Mosca-Boidron, Anne-Laure Malan, Valérie Amiel, Jeanne Nizon, Mathilde Touraine, Renaud Prieur, Fabienne Pasquier, Laurent Callier, Patrick Lefebvre, Mathilde Marle, Nathalie Dubourg, Christèle Julia, Sophie Sarret, Catherine Francannet, Christine Laffargue, Fanny Boespflug-Tanguy, Odile David, Albert Isidor, Bertrand Le Caignec, Cédric Vigneron, Jacqueline Leheup, Bruno Lambert, Laetitia Philippe, Christophe Cuisset, Jean-Marie Andrieux, Joris Plessis, Ghislaine Toutain, Annick Goldenberg, Alice Cormier-Daire, Valérie Rio, Marlène Bonnefont, Jean-Paul Thevenon, Julien Echenne, Bernard Journel, Hubert Afenjar, Alexandra Burglen, Lydie Bienvenu, Thierry Addor, Marie-Claude Lebon, Sébastien Martinet, Danièle Baumann, Clarisse Perrin, Laurence Drunat, Séverine Jouk, Pierre-Simon Devillard, Françoise Coutton, Charles Lacombe, Didier Delrue, Marie-Ange Philip, Nicole Moncla, Anne Badens, Catherine Perreton, Nathalie Masurel, Alice Thauvin-Robinet, Christel Des Portes, Vincent Guibaud, Laurent Producer: 20161013 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)