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Your search keyword '"Frederiksen, Kathrine K."' showing total 2 results
Start Over Author "Frederiksen, Kathrine K." Journal genetics in medicine
2 results on '"Frederiksen, Kathrine K."'

1. Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

Author

Leslie, Joseph S., primary, Hjeij, Rim, additional, Vivante, Asaf, additional, Bearce, Elizabeth A., additional, Dyer, Laura, additional, Wang, Jiaolong, additional, Rawlins, Lettie, additional, Kennedy, Joanna, additional, Ubeyratna, Nishanka, additional, Fasham, James, additional, Irons, Zoe H., additional, Craig, Samuel B., additional, Koenig, Julia, additional, George, Sebastian, additional, Pode-Shakked, Ben, additional, Bolkier, Yoav, additional, Barel, Ortal, additional, Mane, Shrikant, additional, Frederiksen, Kathrine K., additional, Wenger, Olivia, additional, Scott, Ethan, additional, Cross, Harold E., additional, Lorentzen, Esben, additional, Norris, Dominic P., additional, Anikster, Yair, additional, Omran, Heymut, additional, Grimes, Daniel T., additional, Crosby, Andrew H., additional, and Baple, Emma L., additional

Published
2022
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2. Biallelic DAW1variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

Author

Leslie, Joseph S., Hjeij, Rim, Vivante, Asaf, Bearce, Elizabeth A., Dyer, Laura, Wang, Jiaolong, Rawlins, Lettie, Kennedy, Joanna, Ubeyratna, Nishanka, Fasham, James, Irons, Zoe H., Craig, Samuel B., Koenig, Julia, George, Sebastian, Pode-Shakked, Ben, Bolkier, Yoav, Barel, Ortal, Mane, Shrikant, Frederiksen, Kathrine K., Wenger, Olivia, Scott, Ethan, Cross, Harold E., Lorentzen, Esben, Norris, Dominic P., Anikster, Yair, Omran, Heymut, Grimes, Daniel T., Crosby, Andrew H., and Baple, Emma L.

Abstract

The clinical spectrum of motile ciliopathies includes laterality defects, hydrocephalus, and infertility as well as primary ciliary dyskinesia when impaired mucociliary clearance results in otosinopulmonary disease. Importantly, approximately 30% of patients with primary ciliary dyskinesia lack a genetic diagnosis.

Published
2022
Full Text
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