Associated Papers
Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.
Beaman MM et al.
American Journal of Medical Genetics. Part A, 2025
A quantitative super-resolution imaging toolbox for diagnosis of motile ciliopathies.
Liu Z et al.
Science Translational Medicine, 2020
32188719 (PubMed )
Supplement: aay0071_data_file_s1.xlsx › PCD
An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.
Djakow J et al.
Pediatric Pulmonology, 2016
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
Knowles MR et al.
American Journal of Human Genetics, 2013
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