Curso: Carácter: Optativo Bibliografía validada el: 28/05/2023 |
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.
@libro - Disponible en formato electrónico |
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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.
@libro - Disponible en formato electrónico |
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BB | Cassidy SB, Shwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med 2012:14(1):10–26.
@libro - Disponible en formato electrónico |
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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.
@libro - Disponible en formato electrónico |
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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
@libro - Disponible en formato electrónico |
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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
@libro - Disponible en formato electrónico |
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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
@libro - Disponible en formato electrónico |
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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
@libro - Disponible en formato electrónico |
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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.
@libro - Disponible en formato electrónico |
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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.
@libro - Disponible en formato electrónico |
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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.
@libro - Disponible en formato electrónico |
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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.
@libro - Disponible en formato electrónico |
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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.
@libro - Disponible en formato electrónico |
Bueno Lozano, María Gloria 1 | |
Ramos Fuentes, Feliciano Jesús 2 | |
Rodríguez Martínez, Gerardo 1 | |
Samper Villagrasa, María Pilar 1 |