Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Jorge Farrando"'
Autor:
Marta de Castro-Miró, Raul Tonda, Paula Escudero-Ferruz, Rosa Andrés, Andrés Mayor-Lorenzo, Joaquín Castro, Marcela Ciccioli, Daniel A Hidalgo, Juan José Rodríguez-Ezcurra, Jorge Farrando, Juan J Pérez-Santonja, Bru Cormand, Gemma Marfany, Roser Gonzàlez-Duarte
Publikováno v:
PLoS ONE, Vol 11, Iss 12, p e0168966 (2016)
NGS-based genetic diagnosis has completely revolutionized the human genetics field. In this study, we have aimed to identify new genes and mutations by Whole Exome Sequencing (WES) responsible for inherited retinal dystrophies (IRD).A cohort of 33 pe
Externí odkaz:
https://doaj.org/article/bd0127ebb2b94afb975e06e7336f2a8c
Publikováno v:
Ocular immunology and inflammation. 16(1)
Purpose: To describe the first case that the authors are aware of frosted branch angiitis associated with Epstein-Barr virus infection. Methods: Case report. Results: A 7-year-old boy presented with bilateral decreased visual acuity. Funduscopy showe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abaecc014731f84df83046183ec9bfbf
https://pubmed.ncbi.nlm.nih.gov/18379942
https://pubmed.ncbi.nlm.nih.gov/18379942