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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2000 1
2006 1
2007 1
2008 1
2013 3
2014 2
2015 6
2016 9
2017 3
2018 8
2019 9
2020 4
2021 1
2024 0

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43 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. Front Neurosci. 2019 Nov 8;13:1135. doi: 10.3389/fnins.2019.01135. eCollection 2019. Front Neurosci. 2019. PMID: 31780880 Free PMC article.
Carbohydrate status in patients with phenylketonuria.
Couce ML, Sánchez-Pintos P, Vitoria I, De Castro MJ, Aldámiz-Echevarría L, Correcher P, Fernández-Marmiesse A, Roca I, Hermida A, Martínez-Olmos M, Leis R. Couce ML, et al. Among authors: fernandez marmiesse a. Orphanet J Rare Dis. 2018 Jun 27;13(1):103. doi: 10.1186/s13023-018-0847-x. Orphanet J Rare Dis. 2018. PMID: 29945661 Free PMC article.
A glimpse into past, present, and future DNA sequencing.
Morey M, Fernández-Marmiesse A, Castiñeiras D, Fraga JM, Couce ML, Cocho JA. Morey M, et al. Among authors: fernandez marmiesse a. Mol Genet Metab. 2013 Sep-Oct;110(1-2):3-24. doi: 10.1016/j.ymgme.2013.04.024. Epub 2013 May 11. Mol Genet Metab. 2013. PMID: 23742747 Review.
Paucisymptomatic hyperCKemia due to a mutation in the ANO5 gene.
Alcahut-Rodríguez C, Díaz-Maroto I, Fernández-Marmiesse A, García-García J. Alcahut-Rodríguez C, et al. Among authors: fernandez marmiesse a. Neurologia (Engl Ed). 2020 Sep;35(7):510-512. doi: 10.1016/j.nrl.2018.10.007. Epub 2019 Mar 8. Neurologia (Engl Ed). 2020. PMID: 30857783 Free article. English, Spanish. No abstract available.
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.
Couce ML, Aldamiz-Echevarría L, Bueno MA, Barros P, Belanger-Quintana A, Blasco J, García-Silva MT, Márquez-Armenteros AM, Vitoria I, Vives I, Navarrete R, Fernández-Marmiesse A, Pérez B, Pérez-Cerdá C. Couce ML, et al. Among authors: fernandez marmiesse a. J Hum Genet. 2017 Mar;62(3):355-360. doi: 10.1038/jhg.2016.144. Epub 2016 Dec 1. J Hum Genet. 2017. PMID: 27904153
Bethlem myopathy: a series of 16 patients and description of seven new associated mutations.
Panadés-de Oliveira L, Rodríguez-López C, Cantero Montenegro D, Marcos Toledano MDM, Fernández-Marmiesse A, Esteban Pérez J, Hernández Lain A, Domínguez-González C. Panadés-de Oliveira L, et al. Among authors: fernandez marmiesse a. J Neurol. 2019 Apr;266(4):934-941. doi: 10.1007/s00415-019-09217-z. Epub 2019 Jan 31. J Neurol. 2019. PMID: 30706156
43 results