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The role of primary care in management of rare diseases in Ireland.
Byrne N, Turner J, Marron R, Lambert DM, Murphy DN, O'Sullivan G, Mason M, Broderick F, Burke MC, Casey S, Doyle M, Gibney D, Mason F, Molony D, Ormond D, O' Sé C, O'Shea C, Treacy EP. Byrne N, et al. Among authors: lambert dm. Ir J Med Sci. 2020 Aug;189(3):771-776. doi: 10.1007/s11845-019-02168-4. Epub 2020 Jan 13. Ir J Med Sci. 2020. PMID: 31933130 Free PMC article.
Reply to E. Vicente et al.
Rath A, Lambert DM, Olry A, Rodwell C, Le Cam Y. Rath A, et al. Among authors: lambert dm. Eur J Hum Genet. 2021 Jun;29(6):1034-1035. doi: 10.1038/s41431-020-00764-y. Epub 2020 Dec 1. Eur J Hum Genet. 2021. PMID: 33262444 Free PMC article. No abstract available.
ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability.
Mazzucato M, Pozza LVD, Facchin P, Angin C, Agius F, Cavero-Carbonell C, Corrochano V, Hanusova K, Kirch K, Lambert D, Lucano C, Maiella S, Panzaru M, Rusu C, Weber S, Zurriaga O, Zvolsky M, Rath A. Mazzucato M, et al. Orphanet J Rare Dis. 2023 Sep 4;18(1):267. doi: 10.1186/s13023-023-02864-6. Orphanet J Rare Dis. 2023. PMID: 37667299 Free PMC article.
Catalogue of inherited disorders found among the Irish Traveller population.
Lynch SA, Crushell E, Lambert DM, Byrne N, Gorman K, King MD, Green A, O'Sullivan S, Browne F, Hughes J, Knerr I, Monavari AA, Cotter M, McConnell VPM, Kerr B, Jones SA, Keenan C, Murphy N, Cody D, Ennis S, Turner J, Irvine AD, Casey J. Lynch SA, et al. Among authors: lambert dm. J Med Genet. 2018 Apr;55(4):233-239. doi: 10.1136/jmedgenet-2017-104974. Epub 2018 Jan 22. J Med Genet. 2018. PMID: 29358271
267 results