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Page 1
Dispelling myths about rare disease registry system development.
Bellgard M, Beroud C, Parkinson K, Harris T, Ayme S, Baynam G, Weeramanthri T, Dawkins H, Hunter A. Bellgard M, et al. Among authors: dawkins h. Source Code Biol Med. 2013 Oct 16;8(1):21. doi: 10.1186/1751-0473-8-21. Source Code Biol Med. 2013. PMID: 24131574 Free PMC article.
Correction: Dispelling myths about rare disease registry system development.
Bellgard M, Beroud C, Parkinson K, Harris T, Ayme S, Baynam G, Weeramanthri T, Dawkins H, Hunter A. Bellgard M, et al. Among authors: dawkins h. Source Code Biol Med. 2014 Jan 31;9(1):4. doi: 10.1186/1751-0473-9-4. Source Code Biol Med. 2014. PMID: 24484969 Free PMC article. No abstract available.
A Web-Based Registry for Familial Hypercholesterolaemia.
Napier KR, Pang J, Lamont L, Walker CE, Dawkins HJ, Hunter AA, Bockxmeer FMV, Watts GF, Bellgard MI. Napier KR, et al. Heart Lung Circ. 2017 Jun;26(6):635-639. doi: 10.1016/j.hlc.2016.10.019. Epub 2016 Nov 30. Heart Lung Circ. 2017. PMID: 28065523
Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity.
Baynam G, Molster C, Bauskis A, Kowal E, Savarirayan R, Kelaher M, Easteal S, Massey L, Garvey G, Goldblatt J, Pachter N, Weeramanthri TS, Dawkins HJS. Baynam G, et al. Adv Exp Med Biol. 2017;1031:511-520. doi: 10.1007/978-3-319-67144-4_27. Adv Exp Med Biol. 2017. PMID: 29214589 Review.
Phenotyping: targeting genotype's rich cousin for diagnosis.
Baynam G, Walters M, Claes P, Kung S, LeSouef P, Dawkins H, Bellgard M, Girdea M, Brudno M, Robinson P, Zankl A, Groza T, Gillett D, Goldblatt J. Baynam G, et al. Among authors: dawkins h. J Paediatr Child Health. 2015 Apr;51(4):381-6. doi: 10.1111/jpc.12705. Epub 2014 Aug 11. J Paediatr Child Health. 2015. PMID: 25109851 Review.
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS. Baynam G, et al. Among authors: dawkins hjs. Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4. Adv Exp Med Biol. 2017. PMID: 29214566 Review.
Incidental inequity.
Nowak KJ, Bauskis A, Dawkins HJ, Baynam G. Nowak KJ, et al. Eur J Hum Genet. 2018 May;26(5):616-617. doi: 10.1038/s41431-018-0101-y. Epub 2018 Feb 15. Eur J Hum Genet. 2018. PMID: 29449719 Free PMC article. No abstract available.
158 results