Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis-Reference-Cited by-同舟云学术

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Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis

Published:2022-09-04 Issue: Volume: Page:
ISSN:
Container-title:10.01 - Respiratory infections and bronchiectasis
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Author:

Shoemark A,Griffin H,Wheway G,Hogg C,Lucas J S,Camps C,Taylor J,Carroll M,Loebinger M R,Chalmers J D,Morris-Rosendahl D,Mitchison H M,De Soyza A

Publisher

European Respiratory Society

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia;European Journal of Human Genetics;2024-04-11

2. Stepwise genetic approach for the diagnosis of primary ciliary dyskinesia in highly consanguineous populations;Archives of Disease in Childhood;2024-01-31

3. Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice;Current Pulmonology Reports;2024-01-16

4. A deep learning transformer model predicts high rates of undiagnosed rare disease in large electronic health systems;2023-12-24

5. Diagnostic testing in people with primary ciliary dyskinesia: an international participatory study;2023-01-04

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