Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD)

por Andreas Anagiotos, Myrofora Goutaki, André Coste, Nagehan Emiralioglu, Amanda Harris, Andrea Burgess, Mieke Boon, Philipp Latzin, Jean François Papon, Eric G Haarman, Natalie Lorent, Yin Ting Lam, Mihaela Alexandru, Miguel Armengot, Emilie Bequignon, Ela Erdem, Sara-Lynn Hool, Bulent Karadag, Sookyung Kim, Ugur Ozcelik, Ana Reula, Jobst Roehmel, Christine van Gogh, Panayiotis Yiallouros, Soeren Marian Zappe
Publicado 2021

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

por Chiara Olcese, Mitali P. Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Hywel J. Williams, Cara K. Vaughan, Jane Hayward, Alice Goldenberg, Richard D. Emes, Mustafa M. Munye, Laura Dyer, Thomas Cahill, Jeremy Bevillard, Corinne Gehrig, Michel Guipponi, Sandra Chantot, Philippe Duquesnoy, Lucie Thomas, Ludovic Jeanson, Bruno Copin, Aline Tamalet, Christel Thauvin-Robinet, Jean- François Papon, Antoine Garin, Isabelle Pin, Gabriella Vera, Paul Aurora, Mahmoud R. Fassad, Lucy Jenkins, Christopher Boustred, Thomas Cullup, Mellisa Dixon, Alexandros Onoufriadis, Andrew Bush, Eddie M. K. Chung, Stylianos E. Antonarakis, Michael R. Loebinger, Robert Wilson, Miguel Armengot, Estelle Escudier, Claire Hogg, UK10K Rare Group, Serge Amselem, Zhaoxia Sun, Lucia Bartoloni, Jean-Louis Blouin, Hannah M. Mitchison
Publicado 2017