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76 results

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Page 1
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.
Garnier N, Berghout J, Zygmunt A, Singh D, Huang KA, Kantz W, Blankart CR, Gillner S, Zhao J, Roettger R, Saier C, Kirschner J, Schenk J, Atkins L, Ryan N, Zarakowska K, Zschüntzsch J, Zuccolo M, Müllenborn M, Man YS, Goodman L, Trad M, Chalandon AS, Sansen S, Martinez-Fresno M, Badger S, Walther van Olden R, Rothmann R, Lehner P, Tschohl C, Baillon L, Gumus G, Gross E, Stefanov R, Iskrov G, Raycheva R, Kostadinov K, Mitova E, Einhorn M, Einhorn Y, Schepers J, Hübner M, Alves F, Iskandar R, Mayer R, Renieri A, Piperkova A, Gut I, Beltran S, Matthiesen ME, Poetz M, Hansson M, Trollmann R, Agolini E, Ottombrino S, Novelli A, Bertini E, Selvatici R, Farnè M, Fortunato F, Ferlini A. Garnier N, et al. Among authors: stefanov r. PLoS One. 2023 Nov 22;18(11):e0293503. doi: 10.1371/journal.pone.0293503. eCollection 2023. PLoS One. 2023. PMID: 37992053 Free PMC article.
Health systems for rare diseases: financial sustainability.
Iskrov G, Stefanov R, Ferrelli RM. Iskrov G, et al. Among authors: stefanov r. Ann Ist Super Sanita. 2019 Jul-Sep;55(3):270-275. doi: 10.4415/ANN_19_03_13. Ann Ist Super Sanita. 2019. PMID: 31553322 Free article. Review.
Prenatal Vitamin D Deficiency and Maternal and Fetal Health Outcomes.
Tsenkova-Toncheva L, Hristova-Atanasova E, Iskrov G, Stefanov R. Tsenkova-Toncheva L, et al. Among authors: stefanov r. Cureus. 2024 Sep 16;16(9):e69508. doi: 10.7759/cureus.69508. eCollection 2024 Sep. Cureus. 2024. PMID: 39416583 Free PMC article. Review.
Access to orphan drugs - comparison across Balkan countries.
Pejcic AV, Iskrov G, Jakovljevic MM, Stefanov R. Pejcic AV, et al. Among authors: stefanov r. Health Policy. 2018 Jun;122(6):583-589. doi: 10.1016/j.healthpol.2018.04.009. Epub 2018 Apr 26. Health Policy. 2018. PMID: 29729905 Review.
National plans and strategies on rare diseases in Europe.
Taruscio D, Vittozzi L, Stefanov R. Taruscio D, et al. Among authors: stefanov r. Adv Exp Med Biol. 2010;686:475-91. doi: 10.1007/978-90-481-9485-8_26. Adv Exp Med Biol. 2010. PMID: 20824461 Review.
Landscape analysis of available European data sources amenable for machine learning and recommendations on usability for rare diseases screening.
Raycheva R, Kostadinov K, Mitova E, Iskrov G, Stefanov G, Vakevainen M, Elomaa K, Man YS, Gross E, Zschüntzsch J, Röttger R, Stefanov R. Raycheva R, et al. Among authors: stefanov r. Orphanet J Rare Dis. 2024 Apr 6;19(1):147. doi: 10.1186/s13023-024-03162-5. Orphanet J Rare Dis. 2024. PMID: 38582900 Free PMC article.
Transposition and implementation of EU rare disease policy in Eastern Europe.
Pejcic AV, Iskrov G, Raycheva R, Stefanov R, Jakovljevic MM. Pejcic AV, et al. Among authors: stefanov r. Expert Rev Pharmacoecon Outcomes Res. 2017 Dec;17(6):557-566. doi: 10.1080/14737167.2017.1388741. Epub 2017 Oct 10. Expert Rev Pharmacoecon Outcomes Res. 2017. PMID: 28975845 Review.
76 results