Investigación sobre Anomalías Congénitas

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative. Clin Genet. 2022 May 10; 1(5-6):481-493

Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P..

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Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspects. Bone. 2012 Oct 51(4):748-55

Morales-Piga A, Bachiller-Corral J, Trujillo-Tiebas MJ, Villaverde-Hueso A, Gamir-Gamir ML, Alonso-Ferreira V, Vázquez-Díaz M, Posada de la Paz M, Ayuso-García C.

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Prevalence of dystrophic epidermolysis bullosa in Spain: a population-based study using the 3-source capture-recapture method. Evidence of a need for improvement in care. Actas Dermosifiliogr. 2013 Dec;104(10):890-6

Hernandez-Martín A, Aranegui B, Escámez MJ, de Lucas R, Vicente A, Rodríguez-Díaz E, Bernabeu-Wittel J, Gonzalez-Hermosa R, García-Patos V, Ginarte M, Mascaró JM Jr, Corredera C, Baselga E, Santiago JL, Chaves A, Román C, Evole M, Martin-Santiago A, Torrelo A, Del Río M, Feito M, Gonzalez-Enseñat MA, Romero G, Morcillo-Makow E, Abaitua I, García-Doval I.

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Overview of existing initiatives to develop and improve access and data sharing in rare disease registries and biobanks worldwide. Expert Opinion on Orphan Drugs, 4(7), 729–739

López-Martín E, Thompson R, Gainotti S, Wang CM, Rubinstein Y, Taruscio D, Monaco L, Lochmüller H, Alonso-Ferreira V, Posada de la Paz M.

DOI

Investigación