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Year Number of Results
2010 2
2017 2
2018 1
2019 2
2020 0
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7 results
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Page 1
Constitutional mosaicism in RASA1-related capillary malformation-arteriovenous malformation.
Gordo G, Rodriguez-Laguna L, Agra N, Mendez P, Feito M, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V. Gordo G, et al. Among authors: mendez p. Clin Genet. 2019 Apr;95(4):516-519. doi: 10.1111/cge.13499. Epub 2019 Feb 4. Clin Genet. 2019. PMID: 30635911
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.
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. Xiol C, et al. Sci Rep. 2019 Aug 19;9(1):11983. doi: 10.1038/s41598-019-48385-w. Sci Rep. 2019. PMID: 31427717 Free PMC article.
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
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. Vidal S, et al. Sci Rep. 2017 Sep 25;7(1):12288. doi: 10.1038/s41598-017-11620-3. Sci Rep. 2017. PMID: 28947817 Free PMC article.
Antibacterial Activity of Hen Egg White Lysozyme Denatured by Thermal and Chemical Treatments.
Vilcacundo R, Méndez P, Reyes W, Romero H, Pinto A, Carrillo W. Vilcacundo R, et al. Among authors: mendez p. Sci Pharm. 2018 Oct 30;86(4):E48. doi: 10.3390/scipharm86040048. Sci Pharm. 2018. PMID: 30380756 Free article.
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.
Riera M, Navarro R, Ruiz-Nogales S, Méndez P, Burés-Jelstrup A, Corcóstegui B, Pomares E. Riera M, et al. Among authors: mendez p. Sci Rep. 2017 Feb 9;7:42078. doi: 10.1038/srep42078. Sci Rep. 2017. PMID: 28181551 Free PMC article.
Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.
Pomares E, Riera M, Permanyer J, Méndez P, Castro-Navarro J, Andrés-Gutiérrez A, Marfany G, Gonzàlez-Duarte R. Pomares E, et al. Among authors: mendez p. Eur J Hum Genet. 2010 Jan;18(1):118-24. doi: 10.1038/ejhg.2009.114. Eur J Hum Genet. 2010. PMID: 19584904 Free PMC article.
[Association of FTO gene polymorphisms and morbid obesity in the population of Extremadura (Spain)].
Rodríguez-López R, González-Carpio M, Serrano MV, Torres G, García de Cáceres MT, Herrera T, Román A, Rubio M, Méndez P, Hernández-Sáez R, Núñez M, Luengo LM. Rodríguez-López R, et al. Among authors: mendez p. Endocrinol Nutr. 2010 May;57(5):203-9. doi: 10.1016/j.endonu.2010.03.002. Epub 2010 Apr 24. Endocrinol Nutr. 2010. PMID: 20418190 Spanish.
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