Browse by Authors and Editors
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Onoufriadis, Alexandros and Shoemark, Amelia and Schmidts, Miriam and Patel, Mitali and Jimenez, Gina and Liu, Hui and Thomas, Biju and Dixon, Melissa and Hirst, Robert A. and Rutman, Andrew and Burgoyne, Thomas and Williams, Christopher and Scully, Juliet and Bolard, Florence and Lafitte, Jean-Jacques and Beales, Philip L. and Hogg, Claire and Yang, Pinfen and Chung, Eddie M.K. and Emes, Richard D. and O'Callaghan, Christopher and 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
Olcese, Chiara and Patel, Mitali P. and Shoemark, Amelia and Kiviluoto, Santeri and Legendre, Marie and Williams, Hywel J. and Vaughan, Cara K. and Hayward, Jane and Goldenberg, Alice and Emes, Richard D. and Munye, Mustafa M. and Dyer, Laura and Cahill, Thomas and Bevillard, Jeremy and Gehrig, Corinne and Guipponi, Michel and Chantot, Sandra and Duquesnoy, Philippe and Thomas, Lucie and Jeanson, Ludovic and Copin, Bruno and Tamalet, Aline and Thauvin-Robinet, Christel and Papon, Jean- François and Garin, Antoine and Pin, Isabelle and Vera, Gabriella and Aurora, Paul and Fassad, Mahmoud R. and Jenkins, Lucy and Boustred, Christopher and Cullup, Thomas and Dixon, Mellisa and Onoufriadis, Alexandros and Bush, Andrew and Chung, Eddie M. K. and Antonarakis, Stylianos E. and Loebinger, Michael R. and Wilson, Robert and Armengot, Miguel and Escudier, Estelle and Hogg, Claire and Al-Turki, Saeed and Anderson, Carl and Antony, Dinu and Barroso, Inês and Beales, Philip L. and Bentham, Jamie and Bhattacharya, Shoumo and Carss, Keren and Chatterjee, Krishna and Cirak, Sebahattin and Cosgrove, Catherine and Allan, Daly and Durbin, Richard and Fitzpatrick, David and Floyd, Jamie and Foley, A. Reghan and Franklin, Chris and Futema, Marta and Humphries, Steve E. and Hurles, Matt and McCarthy, Shane and Muddyman, Dawn and Muntoni, Francesco and Parker, Victoria and Payne, Felicity and Plagnol, Vincent and Raymond, Lucy and Savage, David B. and Scambler, Peter J. and Schmidts, Miriam and Semple, Robert and Serra, Eva and Stalker, Jim and van Kogelenberg, Margriet and Vijayarangakannan, Parthiban and Walter, Klaudia and Amselem, Serge and Sun, Zhaoxia and Bartoloni, Lucia and Blouin, Jean-Louis and Mitchison, Hannah M. (2017) X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nature Communications, 8 . p. 14279. ISSN 2041-1723