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	41.	EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. [electronic resource] by Gordon, Christopher T Petit, Florence Oufadem, Myriam Decaestecker, Charles Jourdain, Anne-Sophie Andrieux, Joris Malan, Valérie Alessandri, Jean-Luc Baujat, Geneviève Baumann, Clarisse Boute-Benejean, Odile Caumes, Roseline Delobel, Bruno Dieterich, Klaus Gaillard, Dominique Gonzales, Marie Lacombe, Didier Escande, Fabienne Manouvrier-Hanu, Sylvie Marlin, Sandrine Mathieu-Dramard, Michèle Mehta, Sarju G Simonic, Ingrid Munnich, Arnold Vekemans, Michel Porchet, Nicole de Pontual, Loïc Sarnacki, Sabine Attie-Bitach, Tania Lyonnet, Stanislas Holder-Espinasse, Muriel Amiel, Jeanne Producer: 20130613 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)
	42.	Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice. [electronic resource] by De Tomasi, Lara David, Pierre Humbert, Camille Silbermann, Flora Arrondel, Christelle Tores, Frédéric Fouquet, Stéphane Desgrange, Audrey Niel, Olivier Bole-Feysot, Christine Nitschké, Patrick Roume, Joëlle Cordier, Marie-Pierre Pietrement, Christine Isidor, Bertrand Khau Van Kien, Philippe Gonzales, Marie Saint-Frison, Marie-Hélène Martinovic, Jelena Novo, Robert Piard, Juliette Cabrol, Christelle Verma, Ishwar C Puri, Ratna Journel, Hubert Aziza, Jacqueline Gavard, Laurent Said-Menthon, Marie-Hélène Heidet, Laurence Saunier, Sophie Jeanpierre, Cécile Producer: 20171113 In: American journal of human genetics vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	43.	Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. [electronic resource] by Legendre, Marine Gonzales, Marie Goudefroye, Géraldine Bilan, Frédéric Parisot, Pauline Perez, Marie-José Bonnière, Maryse Bessières, Bettina Martinovic, Jelena Delezoide, Anne-Lise Jossic, Frédérique Fallet-Bianco, Catherine Bucourt, Martine Tantau, Julia Loget, Philippe Loeuillet, Laurence Laurent, Nicole Leroy, Brigitte Salhi, Houria Bigi, Nicole Rouleau, Caroline Guimiot, Fabien Quélin, Chloé Bazin, Anne Alby, Caroline Ichkou, Amale Gesny, Roselyne Kitzis, Alain Ville, Yves Lyonnet, Stanislas Razavi, Ferechte Gilbert-Dussardier, Brigitte Vekemans, Michel Attié-Bitach, Tania Producer: 20130503 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)
	44.	Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases. [electronic resource] by Adle-Biassette, Homa Saugier-Veber, Pascale Fallet-Bianco, Catherine Delezoide, Anne-Lise Razavi, Férecheté Drouot, Nathalie Bazin, Anne Beaufrère, Anne-Marie Bessières, Bettina Blesson, Sophie Bucourt, Martine Carles, Dominique Devisme, Louise Dijoud, Frédérique Fabre, Blandine Fernandez, Carla Gaillard, Dominique Gonzales, Marie Jossic, Frédérique Joubert, Madeleine Laurent, Nicole Leroy, Brigitte Loeuillet, Laurence Loget, Philippe Marcorelles, Pascale Martinovic, Jelena Perez, Marie-José Satge, Daniel Sinico, Martine Tosi, Mario Benichou, Jacques Gressens, Pierre Frebourg, Thierry Laquerrière, Annie Producer: 20140407 In: Acta neuropathologica vol. 126 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	45.	Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. [electronic resource] by Baala, Lekbir Audollent, Sophie Martinovic, Jéléna Ozilou, Catherine Babron, Marie-Claude Sivanandamoorthy, Sivanthiny Saunier, Sophie Salomon, Rémi Gonzales, Marie Rattenberry, Eleanor Esculpavit, Chantal Toutain, Annick Moraine, Claude Parent, Philippe Marcorelles, Pascale Dauge, Marie-Christine Roume, Joëlle Le Merrer, Martine Meiner, Vardiella Meir, Karen Menez, Françoise Beaufrère, Anne-Marie Francannet, Christine Tantau, Julia Sinico, Martine Dumez, Yves MacDonald, Fiona Munnich, Arnold Lyonnet, Stanislas Gubler, Marie-Claire Génin, Emmanuelle Johnson, Colin A Vekemans, Michel Encha-Razavi, Férechté Attié-Bitach, Tania Producer: 20070904 In: American journal of human genetics vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	46.	Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients. [electronic resource] by Lehalle, Daphné Gordon, Christopher T Oufadem, Myriam Goudefroye, Géraldine Boutaud, Lucile Alessandri, Jean-Luc Baena, Neus Baujat, Geneviève Baumann, Clarisse Boute-Benejean, Odile Caumes, Roseline Decaestecker, Charles Gaillard, Dominique Goldenberg, Alice Gonzales, Marie Holder-Espinasse, Muriel Jacquemont, Marie-Line Lacombe, Didier Manouvrier-Hanu, Sylvie Marlin, Sandrine Mathieu-Dramard, Michèle Morin, Gilles Pasquier, Laurent Petit, Florence Rio, Marlène Smigiel, Robert Thauvin-Robinet, Christel Vasiljevic, Alexandre Verloes, Alain Malan, Valérie Munnich, Arnold de Pontual, Loïc Vekemans, Michel Lyonnet, Stanislas Attié-Bitach, Tania Amiel, Jeanne Producer: 20150129 In: Human mutation vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	47.	Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. [electronic resource] by Devisme, Louise Bouchet, Céline Gonzalès, Marie Alanio, Elisabeth Bazin, Anne Bessières, Bettina Bigi, Nicole Blanchet, Patricia Bonneau, Dominique Bonnières, Maryse Bucourt, Martine Carles, Dominique Clarisse, Bénedicte Delahaye, Sophie Fallet-Bianco, Catherine Figarella-Branger, Dominique Gaillard, Dominique Gasser, Bernard Delezoide, Anne-Lise Guimiot, Fabien Joubert, Madeleine Laurent, Nicole Laquerrière, Annie Liprandi, Agnès Loget, Philippe Marcorelles, Pascale Martinovic, Jelena Menez, Francoise Patrier, Sophie Pelluard, Fanny Perez, Marie-José Rouleau, Caroline Triau, Stéphane Attié-Bitach, Tania Vuillaumier-Barrot, Sandrine Seta, Nathalie Encha-Razavi, Férechté Producer: 20120427 In: Brain : a journal of neurology vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	48.	Severe X-linked chondrodysplasia punctata in nine new female fetuses. [electronic resource] by Lefebvre, Mathilde Dufernez, Fabienne Bruel, Ange-Line Gonzales, Marie Aral, Bernard Saint-Onge, Judith Gigot, Nadège Desir, Julie Daelemans, Caroline Jossic, Frédérique Schmitt, Sébastien Mangione, Raphaele Pelluard, Fanny Vincent-Delorme, Catherine Labaune, Jean-Marc Bigi, Nicole D'Olne, Dominique Delezoide, Anne-Lise Toutain, Annick Blesson, Sophie Cormier-Daire, Valérie Thevenon, Julien El Chehadeh, Salima Masurel-Paulet, Alice Joyé, Nicole Vibert-Guigue, Claude Rigonnot, Luc Rousseau, Thierry Vabres, Pierre Hervé, Philippe Lamazière, Antonin Rivière, Jean-Baptiste Faivre, Laurence Laurent, Nicole Thauvin-Robinet, Christel Producer: 20160407 In: Prenatal diagnosis vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	49.	The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. [electronic resource] by Delous, Marion Baala, Lekbir Salomon, Rémi Laclef, Christine Vierkotten, Jeanette Tory, Kàlmàn Golzio, Christelle Lacoste, Tiphanie Besse, Laurianne Ozilou, Catherine Moutkine, Imane Hellman, Nathan E Anselme, Isabelle Silbermann, Flora Vesque, Christine Gerhardt, Christoph Rattenberry, Eleanor Wolf, Matthias T F Gubler, Marie Claire Martinovic, Jéléna Encha-Razavi, Féréchté Boddaert, Nathalie Gonzales, Marie Macher, Marie Alice Nivet, Hubert Champion, Gérard Berthélémé, Jean Pierre Niaudet, Patrick McDonald, Fiona Hildebrandt, Friedhelm Johnson, Colin A Vekemans, Michel Antignac, Corinne Rüther, Ulrich Schneider-Maunoury, Sylvie Attié-Bitach, Tania Saunier, Sophie Producer: 20070904 In: Nature genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	50.	KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. [electronic resource] by Putoux, Audrey Thomas, Sophie Coene, Karlien L M Davis, Erica E Alanay, Yasemin Ogur, Gönül Uz, Elif Buzas, Daniela Gomes, Céline Patrier, Sophie Bennett, Christopher L Elkhartoufi, Nadia Frison, Marie-Hélène Saint Rigonnot, Luc Joyé, Nicole Pruvost, Solenn Utine, Gulen Eda Boduroglu, Koray Nitschke, Patrick Fertitta, Laura Thauvin-Robinet, Christel Munnich, Arnold Cormier-Daire, Valérie Hennekam, Raoul Colin, Estelle Akarsu, Nurten Ayse Bole-Feysot, Christine Cagnard, Nicolas Schmitt, Alain Goudin, Nicolas Lyonnet, Stanislas Encha-Razavi, Férechté Siffroi, Jean-Pierre Winey, Mark Katsanis, Nicholas Gonzales, Marie Vekemans, Michel Beales, Philip L Attié-Bitach, Tania Producer: 20110726 In: Nature genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	51.	New insights into genotype-phenotype correlation for GLI3 mutations. [electronic resource] by Démurger, Florence Ichkou, Amale Mougou-Zerelli, Soumaya Le Merrer, Martine Goudefroye, Géraldine Delezoide, Anne-Lise Quélin, Chloé Manouvrier, Sylvie Baujat, Geneviève Fradin, Mélanie Pasquier, Laurent Megarbané, André Faivre, Laurence Baumann, Clarisse Nampoothiri, Sheela Roume, Joëlle Isidor, Bertrand Lacombe, Didier Delrue, Marie-Ange Mercier, Sandra Philip, Nicole Schaefer, Elise Holder, Muriel Krause, Amanda Laffargue, Fanny Sinico, Martine Amram, Daniel André, Gwenaelle Liquier, Alain Rossi, Massimiliano Amiel, Jeanne Giuliano, Fabienne Boute, Odile Dieux-Coeslier, Anne Jacquemont, Marie-Line Afenjar, Alexandra Van Maldergem, Lionel Lackmy-Port-Lis, Marylin Vincent-Delorme, Catherine Chauvet, Marie-Liesse Cormier-Daire, Valérie Devisme, Louise Geneviève, David Munnich, Arnold Viot, Géraldine Raoul, Odile Romana, Serge Gonzales, Marie Encha-Razavi, Ferechte Odent, Sylvie Vekemans, Michel Attie-Bitach, Tania Producer: 20150805 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)
	52.	Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. [electronic resource] by Laquérriere, Annie Maluenda, Jérome Camus, Adrien Fontenas, Laura Dieterich, Klaus Nolent, Flora Zhou, Jié Monnier, Nicole Latour, Philippe Gentil, Damien Héron, Delphine Desguerres, Isabelle Landrieu, Pierre Beneteau, Claire Delaporte, Benoit Bellesme, Céline Baumann, Clarisse Capri, Yline Goldenberg, Alice Lyonnet, Stanislas Bonneau, Dominique Estournet, Brigitte Quijano-Roy, Susana Francannet, Christine Odent, Sylvie Saint-Frison, Marie-Hélène Sigaudy, Sabine Figarella-Branger, Dominique Gelot, Antoinette Mussini, Jean-Marie Lacroix, Catherine Drouin-Garraud, Valerie Malinge, Marie-Claire Attié-Bitach, Tania Bessieres, Bettina Bonniere, Maryse Encha-Razavi, Ferechte Beaufrère, Anne-Marie Khung-Savatovsky, Suonary Perez, Marie José Vasiljevic, Alexandre Mercier, Sandra Roume, Joelle Trestard, Laetitia Saugier-Veber, Pascale Cordier, Marie-Pierre Layet, Valérie Legendre, Marine Vigouroux-Castera, Adeline Lunardi, Joel Bayes, Monica Jouk, Pierre S Rigonnot, Luc Granier, Michèle Sternberg, Damien Warszawski, Josiane Gut, Ivo Gonzales, Marie Tawk, Marcel Melki, Judith Producer: 20141217 In: Human molecular genetics vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)