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Number of items: 1. Onoufriadis, Alexandros, Shoemark, Amelia, Schmidts, Miriam, Patel, Mitali, Jimenez, Gina, Liu, Hui, Thomas, Biju, Dixon, Melissa, Hirst, Robert A., Rutman, Andrew, Burgoyne, Thomas, Williams, Christopher, Scully, Juliet, Bolard, Florence, Lafitte, Jean-Jacques, Beales, Philip L., Hogg, Claire, Yang, Pinfen, Chung, Eddie M.K., Emes, Richard D., O'Callaghan, Christopher, Bouvagnet, Patrice and Mitchison, Hannah M. (2014) Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. Human Molecular Genetics, 23 (13). pp. 3362-3374. ISSN 1460-2083 |
