Results 171 to 180 of about 56,471 (208)

Aportar el valor de la salud a las personas, la misión de las organizaciones sanitarias [PDF]

, 2011
Varela, Jordi
core  

Corrigendum: A zebrafish model of Ifih1-driven Aicardi-Goutières syndrome reproduces the interferon signature and the exacerbated inflammation of patients. [PDF]

Front Immunol
Bernal-Bermúdez B, Martínez-López A, Martínez-Morcillo FJ, Tyrkalska SD, Martínez-Menchón T, Mesa-Del-Castillo P, Cayuela ML, Mulero V, García-Moreno D.   +8 more
europepmc   +1 more source

Phosphoproteomic profiling highlights CDC42 and CDK2 as key players in the regulation of the TGF-β pathway in ALMS1 and BBS1 knockout models. [PDF]

Sci Rep
Bea-Mascato B, Giudice G, Pinheiro-de-Sousa I, Solarat C, Barbeito P, Petsalaki E, Valverde D.   +6 more
europepmc   +1 more source

Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in <i>FAM83G</i>. [PDF]

Front Med (Lausanne)
Mora-Gómez M, Feito M, Gallego-Zazo N, Maseda-Pedrero R, Sobral-Costas TG, Miranda-Alcaraz L, Vásquez-Amell V, Rodríguez-Canó M, Parra A, Cazalla M, Arias P, Silván C, Jiménez-Estrada JA, Ruiz-Pérez VL, Nevado J, Lapunzina P, Tenorio-Castano J.   +16 more
europepmc   +1 more source

Neurofilaments as Biomarkers of the Efficacy of Risdiplam Treatment in Early SMA Phenotypes Diagnosed by Newborn Screening. [PDF]

Children (Basel)
Pitarch-Castellano I, Ñungo-Garzón NC, Aragon-Gawińska K, Ibáñez-Albert E, Vázquez-Costa JF, Sevilla T.   +5 more
europepmc   +1 more source

Excessive glycosylation drives thoracic aortic aneurysm formation through integrated stress response. [PDF]

Eur Heart J
Rochano-Ortiz A, San Sebastián-Jaraba I, Zamora C, Simó C, García-Cañas V, Martínez-Albaladejo S, Fernández-Gómez MJ, Marcos-Ríos D, Martínez-Núñez P, Martín-Lorenzo M, Velho TR, Ruíz-Rodríguez MJ, Leal-Zafra A, Gabandé-Rodríguez E, Martínez-Martínez S, Guala A, Lorenzo Ó, Blanco-Colio LM, Martín-Ventura JL, Álvarez-Llamas G, Aldamiz-Echevarría G, Teixidó-Tura G, Forteza A, Nistal JF, Redondo JM, Méndez-Barbero N, Mittelbrunn M, Oller J.   +27 more
europepmc   +1 more source

The GMI/HbA1c ratio does not independently predict diabetic retinopathy in adults with Type 1 Diabetes. [PDF]

Sci Rep
Sager-La Ganga C, Arranz-Martin JA, Jiménez-Díaz J, Hernando-Alday I, Navas-Moreno V, Fandiño García MDM, Román Gómez GL, Garai Hierro J, Lander Lobariñas LE, Martinez de Icaya P, Sampedro-Nuñez MA, Azpiroz MM, Sebastian-Valles F.   +12 more
europepmc   +1 more source

Oligonucleotides targeting the 3' splice site downstream of a microexon as an innovative therapy for autism. [PDF]

NAR Mol Med
Martinez-Pizarro A, Picó S, Alvárez M, Pose-Utrilla J, Holm LL, Doktor TK, Andresen BS, Lucas JJ, Desviat LR.   +8 more
europepmc   +1 more source