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Items: 3

Select item 60470681.

The Value of Transmission Electron Microscopy for Primary Ciliary Dyskinesia Diagnosis in the Era of Molecular Medicine: Genetic Defects with Normal and Non-Diagnostic Ciliary Ultrastructure

Adam J. Shapiro, Margaret W. Leigh

Ultrastruct Pathol. Author manuscript; available in PMC 2018 Jul 16.

Published in final edited form as: Ultrastruct Pathol. 2017 Nov-Dec; 41(6): 373–385. Published online 2017 Sep 15. doi: 10.1080/01913123.2017.1362088

PMCID:: PMC6047068

Abstract Article PDF–2.4M

Select item 36304642.

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganisation and absent inner dynein arms

Dinu Antony, Anita Becker-Heck, Maimoona A Zariwala, Miriam Schmidts, Alexandros Onoufriadis, Mitra Forouhan, Robert Wilson, Theresa Taylor-Cox, Ann Dewar, Claire Jackson, Patricia Goggin, Niki T Loges, Heike Olbrich, Martine Jaspers, Mark Jorissen, Margaret W Leigh, Whitney E Wolf, M. Leigh Anne Daniels, Peader G Noone, Thomas W Ferkol, Scott D Sagel, Margaret Rosenfeld, Andrew Rutman, Abhijit Dixit, Christopher O’Callaghan, Jane S Lucas, Claire Hogg, Peter J Scambler, Richard D Emes, UK10K, Eddie MK Chung, Amelia Shoemark, Michael R Knowles, Heymut Omran, Hannah M Mitchison

Hum Mutat. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Hum Mutat. 2013 Mar; 34(3): 462–472. Published online 2013 Feb 11. doi: 10.1002/humu.22261