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Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation.
Salinas V, Martínez N, Maturo JP, Rodriguez-Quiroga SA, Zavala L, Medina N, Amartino H, Sfaello I, Agosta G, Serafín EM, Morón DG, Kauffman MA, Vega P. Salinas V, et al. Among authors: medina n. Eur J Med Genet. 2021 Dec;64(12):104363. doi: 10.1016/j.ejmg.2021.104363. Epub 2021 Oct 18. Eur J Med Genet. 2021. PMID: 34673242
Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy.
Salinas V, Vega P, Piccirilli MV, Chicco C, Ciraolo C, Christiansen S, Consalvo D, Perez-Maturo J, Medina N, González-Morón D, Novaro V, Perrone C, García MDC, Agosta G, Silva W, Kauffman M. Salinas V, et al. Among authors: medina n. Eur J Med Genet. 2019 Nov;62(11):103571. doi: 10.1016/j.ejmg.2018.11.005. Epub 2018 Nov 8. Eur J Med Genet. 2019. PMID: 30414531
Inferring parental gonadal mosaicism in LMNA-associated muscular dystrophy by ultra-deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling.
Perez Maturo J, Vega P, Medina N, Salinas V, Pauni M, Agosta G, Muntadas Rausei J, Kauffman M. Perez Maturo J, et al. Among authors: medina n. Am J Med Genet A. 2019 Jun;179(6):1074-1076. doi: 10.1002/ajmg.a.61135. Epub 2019 Mar 26. Am J Med Genet A. 2019. PMID: 30912254 No abstract available.
The odyssey of complex neurogenetic disorders: From undetermined to positive.
Salinas V, Vega P, Marsili L, Pérez-Maturo J, Martínez N, Zavala L, González-Morón D, Medina N, Rodriguez-Quiroga SA, Amartino H, Maxit C, Sturchio A, Grimberg B, Duque K, Comas B, Silva W, Consalvo D, Sfaello I, Espay AJ, Kauffman MA. Salinas V, et al. Among authors: medina n. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):876-884. doi: 10.1002/ajmg.c.31848. Epub 2020 Oct 20. Am J Med Genet C Semin Med Genet. 2020. PMID: 33084218
Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time.
Perez Maturo J, Zavala L, Vega P, González-Morón D, Medina N, Salinas V, Rosales J, Córdoba M, Arakaki T, Garretto N, Rodríguez-Quiroga S, Kauffman MA. Perez Maturo J, et al. Among authors: medina n. J Hum Genet. 2020 Oct;65(10):895-902. doi: 10.1038/s10038-020-0785-z. Epub 2020 Jun 3. J Hum Genet. 2020. PMID: 32488064
Timely diagnosis of Wilson's disease using whole exome sequencing.
Rodríguez-Quiroga SA, Rosales J, Arakaki T, Cordoba M, González-Morón D, Medina N, Garretto NS, Kauffman MA. Rodríguez-Quiroga SA, et al. Among authors: medina n. Parkinsonism Relat Disord. 2015 Nov;21(11):1375-7. doi: 10.1016/j.parkreldis.2015.09.031. Epub 2015 Sep 25. Parkinsonism Relat Disord. 2015. PMID: 26410678 No abstract available.
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.
González-Morón D, Vishnopolska S, Consalvo D, Medina N, Marti M, Córdoba M, Vazquez-Dusefante C, Claverie S, Rodríguez-Quiroga SA, Vega P, Silva W, Kochen S, Kauffman MA. González-Morón D, et al. Among authors: medina n. PLoS One. 2017 Sep 27;12(9):e0185103. doi: 10.1371/journal.pone.0185103. eCollection 2017. PLoS One. 2017. PMID: 28953922 Free PMC article.
236 results