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Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.
Fleming A, Galey M, Briggs L, Edwards M, Hogg C, John S, Wilkinson S, Quinn E, Rai R, Burgoyne T, Rogers A, Patel MP, Griffin P, Muller S, Carr SB, Loebinger MR, Lucas JS, Shah A, Jose R, Mitchison HM, Shoemark A, Miller DE, Morris-Rosendahl DJ. Fleming A, et al. Among authors: shah a. Eur J Hum Genet. 2024 Sep;32(9):1074-1085. doi: 10.1038/s41431-024-01599-7. Epub 2024 Apr 11. Eur J Hum Genet. 2024. PMID: 38605126 Free PMC article.
A lesson in plasticity: a 74-year-old man with plastic bronchitis.
Shah A, Donovan J, Marino P, Shah PL, Devaraj A, Wechalekar K, Maher TM, Loebinger MR, Wilson R. Shah A, et al. Among authors: shah pl. Thorax. 2017 Nov;72(11):1055-1057. doi: 10.1136/thoraxjnl-2017-209965. Epub 2017 Apr 3. Thorax. 2017. PMID: 28373346 Free article. No abstract available.
Tablet and web-based audiometry to screen for hearing loss in adults with cystic fibrosis.
Vijayasingam A, Frost E, Wilkins J, Gillen L, Premachandra P, Mclaren K, Gilmartin D, Picinali L, Vidal-Diez A, Borsci S, Ni MZ, Tang WY, Morris-Rosendahl D, Harcourt J, Elston C, Simmonds NJ, Shah A. Vijayasingam A, et al. Among authors: shah a. Thorax. 2020 Aug;75(8):632-639. doi: 10.1136/thoraxjnl-2019-214177. Epub 2020 May 14. Thorax. 2020. PMID: 32409613
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