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Upshaw-Schulman Syndrome: Novel homozygous missense mutation.
Sarmiento H, Pomares IM, Manresa PM, Castaño FL, Hernandez LM, Marco P. Sarmiento H, et al. Among authors: marco p. Thromb Res. 2017 Oct;158:83-85. doi: 10.1016/j.thromres.2017.08.013. Epub 2017 Aug 23. Thromb Res. 2017. PMID: 28858683 No abstract available.
Multiparameter Flow Cytometry Identification of Neoplastic Subclones: A New Biomarker in Monoclonal Gammopathy of Undetermined Significance and Multiple Myeloma.
Tarín F, López-Castaño F, García-Hernández C, Beneit P, Sarmiento H, Manresa P, Alda O, Villarrubia B, Blanes M, Bernabéu J, Amorós C, Sánchez-Sánchez S, Fernández-Miñano C, De Paz F, Verdú-Belmar J, Marco P, Matutes E. Tarín F, et al. Among authors: marco p. Acta Haematol. 2019;141(1):1-6. doi: 10.1159/000493568. Epub 2018 Nov 14. Acta Haematol. 2019. PMID: 30428459 Free article.
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.
Borràs N, Batlle J, Pérez-Rodríguez A, López-Fernández MF, Rodríguez-Trillo Á, Lourés E, Cid AR, Bonanad S, Cabrera N, Moret A, Parra R, Mingot-Castellano ME, Balda I, Altisent C, Pérez-Montes R, Fisac RM, Iruín G, Herrero S, Soto I, de Rueda B, Jiménez-Yuste V, Alonso N, Vilariño D, Arija O, Campos R, Paloma MJ, Bermejo N, Berrueco R, Mateo J, Arribalzaga K, Marco P, Palomo Á, Sarmiento L, Iñigo B, Nieto MDM, Vidal R, Martínez MP, Aguinaco R, César JM, Ferreiro M, García-Frade J, Rodríguez-Huerta AM, Cuesta J, Rodríguez-González R, García-Candel F, Cornudella R, Aguilar C, Vidal F, Corrales I. Borràs N, et al. Among authors: marco p. Haematologica. 2017 Dec;102(12):2005-2014. doi: 10.3324/haematol.2017.168765. Epub 2017 Sep 29. Haematologica. 2017. PMID: 28971901 Free PMC article.
Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.
Borràs N, Orriols G, Batlle J, Pérez-Rodríguez A, Fidalgo T, Martinho P, López-Fernández MF, Rodríguez-Trillo Á, Lourés E, Parra R, Altisent C, Cid AR, Bonanad S, Cabrera N, Moret A, Mingot-Castellano ME, Navarro N, Pérez-Montes R, Marcellin S, Moreto A, Herrero S, Soto I, Fernández-Mosteirín N, Jiménez-Yuste V, Alonso N, de Andrés-Jacob A, Fontanes E, Campos R, Paloma MJ, Bermejo N, Berrueco R, Mateo J, Arribalzaga K, Marco P, Palomo Á, Quismondo NC, Iñigo B, Nieto MDM, Vidal R, Martínez MP, Aguinaco R, Tenorio JM, Ferreiro M, García-Frade J, Rodríguez-Huerta AM, Cuesta J, Rodríguez-González R, García-Candel F, Dobón M, Aguilar C, Vidal F, Corrales I. Borràs N, et al. Among authors: marco p. Haematologica. 2019 Mar;104(3):587-598. doi: 10.3324/haematol.2018.203166. Epub 2018 Oct 25. Haematologica. 2019. PMID: 30361419 Free PMC article.
667 results