Molecular Biology & Genetics


  Listando 9 trabajos de la institución 39
Lista de trabajos en el área Molecular Biology & Genetics
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Article Selective Loss of PARG Restores PARylation and Counteracts PARP Inhibitor-Mediated Synthetic Lethality Gogola, Ewa; Duarte, Alexandra A.; de Ruiter, Julian R.; Wiegant, Wouter W.; Schmid, Jonas A.; de Bruijn, Roebi; James, Dominic I.; Llobet, Sergi Guerrero; Vis, Daniel J.; Annunziato, Stefano; van den Broek, Bram; Barazas, Marco; Kersbergen, Ariena; van de CANCER CELL 1535-6108 (2018) DOI / 10.1016/j.ccell.2018.05.008 Bronze, Green published
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Article The human nucleoporin Tpr protects cells from RNA-mediated replication stress Kosar, Martin; Giannattasio, Michele; Piccini, Daniele; Maya-Mendoza, Apolinar; Garcia-Benitez, Francisco; Bartkova, Jirina; Barroso, Sonia I.; Gaillard, Helene; Martini, Emanuele; Restuccia, Umberto; Ramirez-Otero, Miguel Angel; Garre, Massimiliano; Verga NATURE COMMUNICATIONS (2021) DOI / 10.1038/s41467-021-24224-3 Green published, Gold
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Review Polycystic ovary syndrome throughout a woman's life Bellver, Jose; Rodriguez-Tabernero, Luis; Robles, Ana; Munoz, Elkin; Martinez, Francisca; Landeras, Jose; Garcia-Velasco, Juan; Fontes, Juan; Alvarez, Monica; Alvarez, Claudio; Acevedo, Belen JOURNAL OF ASSISTED REPRODUCTION AND GENETICS 1058-0468 (2018) DOI / 10.1007/s10815-017-1047-7 Green published
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Article From gestalt to gene: early predictive dysmorphic features of PMM2-CDG Martinez-Monseny, Antonio; Cuadras, Daniel; Bolasell, Merce; Muchart, Jordi; Arjona, Cesar; Borregan, Mar; Algrabli, Adi; Montero, Raquel; Artuch, Rafael; Velazquez-Fragua, Ramon; Macaya, Alfons; Perez-Cerda, Celia; Perez-Duenas, Belen; Perez, Belen; Serra JOURNAL OF MEDICAL GENETICS 0022-2593 (2019) DOI / 10.1136/jmedgenet-2018-105588
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Article Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation Pena-Quintana, L.; Scherer, G.; Curbelo-Estevez, M. L.; Jimenez-Acosta, F.; Hartmann, B.; La Roche, F.; Meavilla-Olivas, S.; Perez-Cerda, C.; Garcia-Segarra, N.; Giguere, Y.; Huppke, P.; Mitchell, G. A.; Moench, E.; Trump, D.; Vianey-Saban, C.; Trimble, E. CLINICAL GENETICS 0009-9163 (2017) DOI / 10.1111/cge.13003
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Review The solitary median maxillary central incisor (SMMCI) syndrome: Associations, prenatal diagnosis, and outcomes Garcia Rodriguez, Raquel; Garcia Cruz, Loida; Novoa Medina, Yeray; Garcia Delgado, Raquel; Perez Gonzalez, Julio; Palma Milla, Carmen; Lopez Siles, Juan; Medina Castellano, Margarita; Garcia Hernandez, Jose Angel; Santana Rodriguez, Alfredo PRENATAL DIAGNOSIS 0197-3851 (2019) DOI / 10.1002/pd.5451
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Article Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain Medrano, Celia; Vega, Ana; Navarrete, Rosa; Jesus Ecay, M.; Calvo, Rocio; Ignacio Pascual, Samuel; Ruiz-Pons, Monica; Toledo, Laura; Garcia-Jimenez, Inmaculada; Arroyo, Ignacio; Campo, Andrea; Luz Couce, M.; Rosario Domingo-Jimenez, M.; Teresa Garcia-Silva CLINICAL GENETICS 0009-9163 (2019) DOI / 10.1111/cge.13508
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Article North African-Mediterranean HLA genetic contribution in a population of the kidney transplant waiting list patients of Canary origin (Gran Canaria) Martinez-Laso, J.; Ramirez-Puga, A.; Rivas-Garcia, E.; Fernandez-Tagarro, E.; Auyanet-Saavedra, I.; Guerra-Rodriguez, R.; Diaz-Novo, N.; Garcia-Canton, C. HLA 2059-2302 (2018) DOI / 10.1111/tan.13298
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Article Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment Bravo-Alonso, Irene; Navarrete, Rosa; Isabel Vega, Ana; Ruiz-Sala, Pedro; Garcia Silva, Maria Teresa; Martin-Hernandez, Elena; Quijada-Fraile, Pilar; Belanger-Quintana, Amaya; Stanescu, Sinziana; Bueno, Maria; Vitoria, Isidro; Toledo, Laura; Couce, Maria L JOURNAL OF CLINICAL MEDICINE (2019) DOI / 10.3390/jcm8111811 Green published, Gold

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