Zaragoza:

 
BB Aymé S. The importance of review articles in making the voice of rare diseases Heard. OJRD 10th Anniversary. Orphanet J Rare Dis 2016 28;11(1):71. doi: 10.1186/s13023-016-0456-5.
BB Boettcher J, Boettcher M, Wiegand-Grefe S, Zapf H. Being the Pillar for Children with Rare Diseases-A Systematic Review on Parental Quality of Life. Int J Environ Res Public Health. 2021 May 8;18(9):4993. doi: 10.3390/ijerph18094993. PMID: 34066738 Free PMC article. Review.
BB Cassidy SB, Shwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med 2012:14(1):10–26.
BB Danielsson K1, Mun LJ, Lordemann A, Mao J, Lin CH. Next-generation sequencing applied to rare diseases genomics. Expert Rev Mol Diagn. 2014 May;14(4):469-87. doi: 10.1586/14737159.2014.904749. Epub 2014 Apr 4.
BB Darras BT. Spinal Muscular Atrophies. Pediatr Clin North Am. 2015 Jun;62(3):743-766. Epub 2015 Apr 11
BB Evangelista T, Hedley V, Atalaia A, Johnson M, Lynn S, Le Cam Y, Bushby K. The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks. Orphanet J Rare Dis 2016; 4;11-17
BB Ferlini A, Scotton C, Novelli G. Biomarkers in rare diseases. Public Health Genomics. 2013;16(6):313-21. doi: 10.1159/000355938. Epub 2014 Feb 3
BB García-Pérez L, Linertová R, Valcárcel-Nazco C, Posada M, Gorostiza I, Serrano-Aguilar P.Cost-of-illness studies in rare diseases: a scoping review. Orphanet J Rare Dis. 2021 Apr 13;16(1):178. doi: 10.1186/s13023-021-01815-3. PMID: 33849613
BB Klimova B, Storek M, Valis M, Kuca K. Global View on Rare Diseases: A Mini Review. Curr Med Chem. 2017;24(29):3153-3158. doi: 10.2174/0929867324666170511111803. PMID: 28494745 Review.
BB McLennan Y, Polussa J, Tassone F, Hagerman R. Fragile X Syndrome. Current Genomics, 2011; 12; 216-224
BB Montserrat Moliner A; Waligora J. The european union policy in the field of rare diseases. Public Health Genomics. 2013;16(6):268-77. doi: 10.1159/000355930. Epub 2014 Feb 3.
BB Paz S, Torrent J, Poveda JL, Perez J, Moreno JL, Martin A, Gonzalez L, Cruz J, Comellas M, Abaitua I, Urcelay J. Experts consensus on the future of Rare Diseases care and orphan drugs access, Spain: A Delphi Study. Value Health 2015; 18(7):A679.
BB Schaff J, Sedlmayr M, Schaefer J, Storf H. Diagnosis of Rare Diseases: a scoping review of clinical decision support systems. Orphanet Journal of Rare Diseases. 2020;15(1):1–14. DOI 10.1186/s13023-020-01536-z.
BB 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.. EUROPLAN: a project to support the development of national plans on rare diseases in Europe. Public Health Genomics. 2013;16(6):278-87. doi: 10.1159/000355932. Epub 2014 Feb 3.
BC Kerr K, McAneney H, McKnight AJ. Protocol for a scoping review of multi-omic analysis for rare diseases. BMJ Open. 2019 May 5;9(5):e026278. doi: 10.1136/bmjopen-2018-026278. PMID: 31061034 Free PMC article.


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