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Nature Communications, ISSN 2041-1723, 2017, Volume 8, Issue 1, p. 14279
Journal Article
Human Mutation, ISSN 1059-7794, 2015, Volume 36, Issue 1, pp. 48 - 56
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2018, Volume 103, Issue 6, pp. 984 - 994
Journal Article
Journal Article
The European respiratory journal, ISSN 0903-1936, 2018, Volume 51, Issue 2, pp. 1701809 - 1701809
In primary ciliary dyskinesia (PCD), motile ciliary dysfunction arises from ciliary defects usually confirmed by transmission electron microscopy (TEM). In 30%... 
DIAGNOSIS | DEFECTS | IMMUNOFLUORESCENCE | GENETICS | RESPIRATORY SYSTEM | CRYOELECTRON TOMOGRAPHY | RESPIRATORY CILIA | MUTATIONS | Transmission electron microscopy | Primary ciliary dyskinesia | Ultrastructure | Dynein | Genetic analysis | Tomography | Diagnosis | Mutation | Cilia | Dyskinesia
Journal Article
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 1, pp. 83 - 87
Journal Article
Brain, ISSN 0006-8950, 09/2016, Volume 139, Issue 9, pp. e53 - e53
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2017, Volume 12, Issue 7, p. e0181874
Journal Article
Human mutation, ISSN 1059-7794, 1/2015, Volume 36, Issue 1, pp. 48 - 56
Collagen VI-related dystrophies and myopathies (COL6-RD) are a group of disorders that form a wide phenotypic spectrum, ranging from severe Ullrich congenital... 
Bethlem Myopathy | Ullrich Congenital Muscular Dystrophy | COL6A2 and COL6A3 | Collagen VI | Genetic counseling | COL6A1
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0040-6376, 02/2003, Volume 74, Issue 2, p. 203
Background: Current magnetic resonance imaging (MRI) outcome measures such as T2 lesion load correlate poorly with disability in multiple sclerosis. Diffusion... 
Journal Article
Thorax, ISSN 0040-6376, 02/2018, Volume 73, Issue 2, pp. 157 - 166
Journal Article