Associated Papers
Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia.
Lee DDH et al.
The European Respiratory Journal, 2021
Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation.
Robson EA et al.
Neurology. Genetics, 2020
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1
MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia.
Boon M et al.
Nature Communications, 2014
Select a paper to view details