The mutation spectrum in RECQL4 diseases

بواسطة Siitonen, H Annika, Sotkasiira, Jenni, Biervliet, Martine, Benmansour, Abdelmadjid, Capri, Yline, Cormier-Daire, Valerie, Crandall, Barbara, Hannula-Jouppi, Katariina, Hennekam, Raoul, Herzog, Denise, Keymolen, Kathelijn, Lipsanen-Nyman, Marita, Miny, Peter, Plon, Sharon E, Riedl, Stefan, Sarkar, Ajoy, Vargas, Fernando R, Verloes, Alain, Wang, Lisa L, Kääriäinen, Helena, Kestilä, Marjo
منشور في 2009

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia

بواسطة Symoens, Sofie, Barnes, Aileen M., Gistelinck, Charlotte, Malfait, Fransiska, Guillemyn, Brecht, Steyaert, Wouter, Syx, Delfien, D’hondt, Sanne, Biervliet, Martine, De Backer, Julie, Witten, Eckhard P., Leikin, Sergey, Makareeva, Elena, Gillessen-Kaesbach, Gabriele, Huysseune, Ann, Vleminckx, Kris, Willaert, Andy, De Paepe, Anne, Marini, Joan C., Coucke, Paul J.
الحاوية / القاعدة Am J Hum Genet (2015)

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

بواسطة Navarro, Claire Laure, Esteves-Vieira, Vera, Courrier, Sébastien, Boyer, Amandine, Duong Nguyen, Thuy, Huong, Le Thi Thanh, Meinke, Peter, Schröder, Winnie, Cormier-Daire, Valérie, Sznajer, Yves, Amor, David J, Lagerstedt, Kristina, Biervliet, Martine, van den Akker, Peter C, Cau, Pierre, Roll, Patrice, Lévy, Nicolas, Badens, Catherine, Wehnert, Manfred, De Sandre-Giovannoli, Annachiara
الحاوية / القاعدة Eur J Hum Genet (2014)