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Page 1
Consensus clinical management guidelines for Alström syndrome.
Tahani N, Maffei P, Dollfus H, Paisey R, Valverde D, Milan G, Han JC, Favaretto F, Madathil SC, Dawson C, Armstrong MJ, Warfield AT, Düzenli S, Francomano CA, Gunay-Aygun M, Dassie F, Marion V, Valenti M, Leeson-Beevers K, Chivers A, Steeds R, Barrett T, Geberhiwot T. Tahani N, et al. Orphanet J Rare Dis. 2020 Sep 21;15(1):253. doi: 10.1186/s13023-020-01468-8. Orphanet J Rare Dis. 2020. PMID: 32958032 Free PMC article.
The patient's view on rare disease trial design - a qualitative study.
Gaasterland CMW, van der Weide MCJ, du Prie-Olthof MJ, Donk M, Kaatee MM, Kaczmarek R, Lavery C, Leeson-Beevers K, O'Neill N, Timmis O, van Nederveen V, Vroom E, van der Lee JH. Gaasterland CMW, et al. Orphanet J Rare Dis. 2019 Feb 7;14(1):31. doi: 10.1186/s13023-019-1002-z. Orphanet J Rare Dis. 2019. PMID: 30732630 Free PMC article.
The POWER-tool: Recommendations for involving patient representatives in choosing relevant outcome measures during rare disease clinical trial design.
Gaasterland CMW, Jansen-van der Weide MC, Vroom E, Leeson-Beevers K, Kaatee M, Kaczmarek R, Bartels B, van der Pol WL, Roes KCB, van der Lee JH. Gaasterland CMW, et al. Health Policy. 2018 Dec;122(12):1287-1294. doi: 10.1016/j.healthpol.2018.09.011. Epub 2018 Sep 21. Health Policy. 2018. PMID: 30274934 Free article.
Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service.
Hill M, Ellard S, Fisher J, Fulop N, Knight M, Kroese M, Ledger J, Leeson-Beevers K, McEwan A, McMullan D, Mellis R, Morris S, Parker M, Tapon D, Baple E, Blackburn L, Choudry A, Lafarge C, McInnes-Dean H, Peter M, Ramakrishnan R, Roberts L, Searle B, Smith E, Walton H, Wynn SL, Han Wu W, Chitty LS. Hill M, et al. Among authors: leeson beevers k. NIHR Open Res. 2022 Jul 18;2:10. doi: 10.3310/nihropenres.13247.2. eCollection 2022. NIHR Open Res. 2022. PMID: 35935673 Free PMC article.
Alström syndrome: the journey to diagnosis.
Sinha A, Leeson-Beevers K, Lewis C, Loughery E, Geberhiwot T. Sinha A, et al. Among authors: leeson beevers k. Orphanet J Rare Dis. 2025 Jan 6;20(1):5. doi: 10.1186/s13023-024-03509-y. Orphanet J Rare Dis. 2025. PMID: 39763001 Free PMC article.
Equity and timeliness as factors in the effectiveness of an ethical prenatal sequencing service: reflections from parents and professionals.
Peter M, Hill M, Fisher J, Daniel M, McInnes-Dean H, Mellis R, Walton H, Lafarge C, Leeson-Beevers K, Peet S, Tapon D, Wynn SL, Chitty LS, Parker M. Peter M, et al. Among authors: leeson beevers k. Eur J Hum Genet. 2024 Oct 3. doi: 10.1038/s41431-024-01700-0. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39362995
Preferences for coordinated care for rare diseases: discrete choice experiment.
Morris S, Walton H, Simpson A, Leeson-Beevers K, Bloom L, Hunter A, Ramsay AIG, Fulop NJ, Chitty LS, Kai J, Sutcliffe AG, Kokocinska M, Kerecuk L, Taylor CA, Ng PL. Morris S, et al. Among authors: leeson beevers k. Orphanet J Rare Dis. 2024 Sep 9;19(1):332. doi: 10.1186/s13023-024-03353-0. Orphanet J Rare Dis. 2024. PMID: 39252123 Free PMC article.
15 results