|
Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Brandi N, Pacheco P, Gerotina E, O'Callaghan M, Pineda M, Armstrong J; Rett Working Group. X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients. Sci Rep. 2019 Aug 19;9(1):11983. doi: 10.1038/s41598-019-48385-w. PubMed PMID: 31427717; PubMed Central PMCID: PMC6700087.
AÑO: 2019; IF: 3.998
|
|
Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O'Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J; Rett Working Group. The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome. Sci Rep. 2017 Sep 25;7(1):12288. doi: 10.1038/s41598-017-11620-3. PubMed PMID: 28947817; PubMed Central PMCID: PMC5613000.
AÑO: 2017; IF: 4.122
|
|
Navarro EG, Romero MC, Expósito IL, Velasco CM, Llamas JG, Ramón FJ, Jimenez RD. De novo interstitial tandem duplication of chromosome 4(q21-q28). Am J Med Genet. 1996 Mar 29;62(3):297-9. Review. PubMed PMID: 8882791.
AÑO: 1996
|
|
Del Pozo-Valero M, Corton M, Lopez-Rodriguez R, Mahillo-Fernandez I, Ruiz-Hornillos J, Minguez P, Villaverde C, Perez-Tomas ME, Barreda-Sanchez M, Mancebo E; STOP_Coronavirus Study Group; Paz-Artal E, Guillen-Navarro E, Almoguera B, Ayuso C. Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years. Geroscience. 2023 Feb;45(1):543-553. doi: 10.1007/s11357-022-00666-5. Epub 2022 Oct 3. PubMed PMID: 36184726; PubMed Central PMCID: PMC9527133.
AÑO: 2023; IF: 5.3
|
|
Lopez-Rodriguez R, Del Pozo-Valero M, Corton M, Minguez P, Ruiz-Hornillos J, Perez-Tomas ME, Barreda-Sanchez M, Mancebo E, Villaverde C, Nunez-Moreno G, Romero R; STOP_Coronavirus Study Group; Paz-Artal E, Guillen-Navarro E, Almoguera B, Ayuso C. Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19. Sci Rep. 2022 Jun 20;12(1):10369. doi: 10.1038/s41598-022-14035-x. PubMed PMID: 35725860; PubMed Central PMCID: PMC9208539.
AÑO: 2022; IF: 4.6
|
31427717