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Page 1
New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy.
Bravo García-Morato M, Aracil Santos FJ, Briones AC, Blázquez Moreno A, Del Pozo Maté Á, Domínguez-Soto Á, Beato Merino MJ, Del Pino Molina L, Torres Canizales J, Marin AV, Vallespín García E, Feito Rodríguez M, Plaza López Sabando D, Jiménez-Reinoso A, Mozo Del Castillo Y, Sanz Santaeufemia FJ, de Lucas-Laguna R, Cárdenas PP, Casamayor Polo L, Coronel Díaz M, Valés-Gómez M, Roldán Santiago E, Ferreira Cerdán A, Nevado Blanco J, Corbí ÁL, Reyburn HT, Regueiro JR, López-Granados E, Rodríguez Pena R. Bravo García-Morato M, et al. Among authors: vallespin garcia e. J Allergy Clin Immunol. 2018 May;141(5):1924-1927.e18. doi: 10.1016/j.jaci.2017.12.995. Epub 2018 Mar 2. J Allergy Clin Immunol. 2018. PMID: 29408330 No abstract available.
Heredity and in vivo confocal microscopy of punctiform and polychromatic pre-Descemet dystrophy.
Henríquez-Recine MA, Marquina-Lima KS, Vallespín-García E, García-Miñaur S, Benitez Del Castillo JM, Boto de Los Bueis A. Henríquez-Recine MA, et al. Among authors: vallespin garcia e. Graefes Arch Clin Exp Ophthalmol. 2018 Sep;256(9):1661-1667. doi: 10.1007/s00417-018-3993-x. Epub 2018 May 4. Graefes Arch Clin Exp Ophthalmol. 2018. PMID: 29728753
Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach.
Diego-Alvarez D, Ramos-Corrales C, Garcia-Hoyos M, Bustamante-Aragones A, Cantalapiedra D, Diaz-Recasens J, Vallespin-Garcia E, Ayuso C, Lorda-Sanchez I. Diego-Alvarez D, et al. Among authors: vallespin garcia e. Hum Reprod. 2006 Apr;21(4):958-66. doi: 10.1093/humrep/dei406. Epub 2005 Dec 16. Hum Reprod. 2006. PMID: 16361293