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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H. Boycott KM, et al. Among authors: stefanov r. Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003. Am J Hum Genet. 2017. PMID: 28475856 Free PMC article.
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.
EUROPLAN: a project to support the development of national plans on rare diseases in Europe.
Taruscio D, Gentile AE, De Santis M, Ferrelli RM, Posada de la Paz M, Hens M, Huizer J, Fregonese L, Stefanov R, Bottarelli V, Weinman A, Le Cam Y, Gavhed D, Mincarone P, Bushby K, Frazzica RG, Donati C, Vittozzi L, Jessop E. Taruscio D, et al. Among authors: stefanov r. Public Health Genomics. 2013;16(6):278-87. doi: 10.1159/000355932. Epub 2014 Feb 3. Public Health Genomics. 2013. PMID: 24503588
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.
73 results