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Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.
Genet Med. 2024 Mar;26(3):101051. doi: 10.1016/j.gim.2023.101051. Epub 2023 Dec 19.
Genet Med. 2024.
PMID: 38131308
Free article.
Systemic Bioavailability of Sublingual Atropine Ophthalmic Solution: a Phase I Study in Healthy Volunteers with Implications for Use as a Contingency Medical Countermeasure.
Schwartz MD, Raulli R, Laney JW, Coley W, Walker R, O'Rourke AW, Raine K, Horwith G, Gao Y, Eisnor DL, Lu D, Wolling B, David G, Johnson K, Barry WT, Chang J, Jepson B, Fein M.
Schwartz MD, et al. Among authors: o rourke aw.
J Med Toxicol. 2022 Jul;18(3):187-197. doi: 10.1007/s13181-021-00873-0. Epub 2022 Mar 21.
J Med Toxicol. 2022.
PMID: 35312968
Free PMC article.
Clinical Trial.
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Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO, Bochukova EG, Hansen RM, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Venâncio M, Hurst JA, O'rourke AW, Williams LJ, Seller A, Lester T.
Wilkie AO, et al. Among authors: o rourke aw.
Am J Med Genet A. 2007 Aug 15;143A(16):1941-9. doi: 10.1002/ajmg.a.31905.
Am J Med Genet A. 2007.
PMID: 17621648
Review.
Item in Clipboard
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO, Bochukova EG, Hansen RM, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Venâncio M, Hurst JA, O'Rourke AW, Williams LJ, Seller A, Lester T.
Wilkie AO, et al. Among authors: o rourke aw.
Am J Med Genet A. 2006 Dec 1;140(23):2631-9. doi: 10.1002/ajmg.a.31366.
Am J Med Genet A. 2006.
PMID: 16838304
Review.
Item in Clipboard
Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia.
Goriely A, McVean GA, van Pelt AM, O'Rourke AW, Wall SA, de Rooij DG, Wilkie AO.
Goriely A, et al. Among authors: o rourke aw.
Proc Natl Acad Sci U S A. 2005 Apr 26;102(17):6051-6. doi: 10.1073/pnas.0500267102. Epub 2005 Apr 19.
Proc Natl Acad Sci U S A. 2005.
PMID: 15840724
Free PMC article.
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