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	1.	Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis. [electronic resource] by Gonzales, Marie Verloes, Alain Saint Frison, Marie-Hélène Perrotez, Chantal Bourdet, Odile Encha-Razavi, Ferechte Joyé, Nicole Taillemite, Jean-Louis Walbaum, Roland Pfeiffer, Rudolf Maroteaux, Pierre Producer: 20050822 In: American journal of medical genetics. Part A vol. 136A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	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)
	3.	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)