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European Reference Networks: challenges and opportunities.
Tumiene B, Graessner H, Mathijssen IM, Pereira AM, Schaefer F, Scarpa M, Blay JY, Dollfus H, Hoogerbrugge N. Tumiene B, et al. J Community Genet. 2021 Apr;12(2):217-229. doi: 10.1007/s12687-021-00521-8. Epub 2021 Mar 17. J Community Genet. 2021. PMID: 33733400 Free PMC article.
Rare diseases: past achievements and future prospects.
Tumiene B, Kristoffersson U, Hedley V, Kääriäinen H. Tumiene B, et al. J Community Genet. 2021 Apr;12(2):205-206. doi: 10.1007/s12687-021-00529-0. J Community Genet. 2021. PMID: 33945116 Free PMC article. No abstract available.
Rare disease education in Europe and beyond: time to act.
Tumiene B, Peters H, Melegh B, Peterlin B, Utkus A, Fatkulina N, Pfliegler G, Graessner H, Hermanns S, Scarpa M, Blay JY, Ashton S, McKay L, Baynam G. Tumiene B, et al. Orphanet J Rare Dis. 2022 Dec 19;17(1):441. doi: 10.1186/s13023-022-02527-y. Orphanet J Rare Dis. 2022. PMID: 36536417 Free PMC article.
Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion.
Preiksaitiene E, Tumienė B, Maldžienė Ž, Pranckevičienė E, Morkūnienė A, Utkus A, Kučinskas V. Preiksaitiene E, et al. Among authors: tumiene b. Ophthalmic Genet. 2017 Jul-Aug;38(4):383-386. doi: 10.1080/13816810.2016.1227452. Epub 2016 Nov 23. Ophthalmic Genet. 2017. PMID: 27880066
Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.
Tumienė B, Voisin N, Preikšaitienė E, Petroška D, Grikinienė J, Samaitienė R, Utkus A, Reymond A, Kučinskas V. Tumienė B, et al. Eur J Med Genet. 2017 Mar;60(3):154-158. doi: 10.1016/j.ejmg.2016.12.004. Epub 2017 Jan 9. Eur J Med Genet. 2017. PMID: 28089741
Time for Change? The Why, What and How of Promoting Innovation to Tackle Rare Diseases - Is It Time to Update the EU's Orphan Regulation? And if so, What Should be Changed?
Horgan D, Moss B, Boccia S, Genuardi M, Gajewski M, Capurso G, Fenaux P, Gulbis B, Pellegrini M, Mañú Pereira MDM, Gutiérrez Valle V, Gutiérrez Ibarluzea I, Kent A, Cattaneo I, Jagielska B, Belina I, Tumiene B, Ward A, Papaluca M. Horgan D, et al. Among authors: tumiene b. Biomed Hub. 2020 Jul 17;5(2):1-11. doi: 10.1159/000509272. eCollection 2020 May-Aug. Biomed Hub. 2020. PMID: 33564657 Free PMC article.
34 results