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Year Number of Results
2002 1
2003 1
2009 2
2010 2
2011 2
2012 4
2013 2
2014 2
2015 4
2016 3
2017 1
2018 2
2019 6
2020 2
2021 1
2023 2
2024 1

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29 results

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Page 1
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A, Roca I, Díaz-Flores F, Cantarín V, Pérez-Poyato MS, Fontalba A, Laranjeira F, Quintans S, Moldovan O, Felgueroso B, Rodríguez-Pedreira M, Simón R, Camacho A, Quijada P, Ibanez-Mico S, Domingno MR, Benito C, Calvo R, Pérez-Cejas A, Carrasco ML, Ramos F, Couce ML, Ruiz-Falcó ML, Gutierrez-Solana L, Martínez-Atienza M. Fernández-Marmiesse A, et al. Among authors: benito c. Front Neurosci. 2019 Nov 8;13:1135. doi: 10.3389/fnins.2019.01135. eCollection 2019. Front Neurosci. 2019. PMID: 31780880 Free PMC article.
Metabolic Serendipities of Expanded Newborn Screening.
Yahyaoui R, Blasco-Alonso J, Gonzalo-Marín M, Benito C, Serrano-Nieto J, González-Gallego I, Ruiz-Sala P, Pérez B, González-Lamuño D. Yahyaoui R, et al. Among authors: benito c. Genes (Basel). 2020 Aug 29;11(9):1018. doi: 10.3390/genes11091018. Genes (Basel). 2020. PMID: 32872442 Free PMC article.
The Exonuclease Trex2 Shapes Psoriatic Phenotype.
Manils J, Casas E, Viña-Vilaseca A, López-Cano M, Díez-Villanueva A, Gómez D, Marruecos L, Ferran M, Benito C, Perrino FW, Vavouri T, de Anta JM, Ciruela F, Soler C. Manils J, et al. Among authors: benito c. J Invest Dermatol. 2016 Dec;136(12):2345-2355. doi: 10.1016/j.jid.2016.05.122. Epub 2016 Jun 27. J Invest Dermatol. 2016. PMID: 27365293 Free article.
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
Association between use of enhanced recovery after surgery protocols and postoperative complications after gastric surgery for cancer (POWER 4): a nationwide, prospective multicentre study.
Ripollés-Melchor J, Abad-Motos A, Bruna-Esteban M, García-Nebreda M, Otero-Martínez I, Abdel-Lah Fernández O, Tormos-Pérez MP, Paseiro-Crespo G, García-Álvarez R, A Mayo-Ossorio M, Zugasti-Echarte O, Nespereira-García P, Gil-Gómez L, Logroño-Ejea M, Risco R, Parreño-Manchado FC, Gil-Trujillo S, Benito C, Jericó C, De-Miguel-Cabrera MI, Ugarte-Sierra B, Barragán-Serrano C, García-Erce JA, Muñoz-Hernández H, Río-Fernández SD, Herrero-Bogajo ML, Espinosa-Moreno AM, Concepción-Martín V, Zorrilla-Vaca A, Vaquero-Pérez L, Mojarro I, Llácer-Pérez M, Gómez-Viana L, Fernández-Martín MT, Abad-Gurumeta A, Ferrando-Ortolà C, Ramírez-Rodríguez JM, Aldecoa C; POWER Study Investigators Group. Ripollés-Melchor J, et al. Among authors: benito c. Cir Esp (Engl Ed). 2023 Oct;101(10):665-677. doi: 10.1016/j.cireng.2023.04.011. Epub 2023 Apr 23. Cir Esp (Engl Ed). 2023. PMID: 37094777
Hyperinsulinemic hypoglycemia in a patient with an intragenic NSD1 mutation.
Carrasco Salas P, Palma Milla C, Lezana Rosales JM, Benito C, Franco Freire S, López Siles J. Carrasco Salas P, et al. Among authors: benito c. Am J Med Genet A. 2016 Feb;170A(2):544-546. doi: 10.1002/ajmg.a.37440. Epub 2015 Oct 21. Am J Med Genet A. 2016. PMID: 26487424 No abstract available.
Multifaceted role of TREX2 in the skin defense against UV-induced skin carcinogenesis.
Manils J, Gómez D, Salla-Martret M, Fischer H, Fye JM, Marzo E, Marruecos L, Serrano I, Salgado R, Rodrigo JP, Garcia-Pedrero JM, Serafin AM, Cañas X, Benito C, Toll A, Forcales SV, Perrino FW, Eckhart L, Soler C. Manils J, et al. Among authors: benito c. Oncotarget. 2015 Sep 8;6(26):22375-96. doi: 10.18632/oncotarget.4296. Oncotarget. 2015. PMID: 26090614 Free PMC article.
29 results