Perfil del autor: Rodríguez de la Rúa Franch, Enrique
Datos institucionales
Nombre | Rodríguez de la Rúa Franch, Enrique |
Departamento | Cirugía |
Área de conocimiento | Oftalmología |
Categoría profesional | Profesor Asociado CIS |
Correo electrónico | Solicitar |
Estadísticas
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Nº publicaciones
10
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Nº visitas
804
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Nº descargas
940
Publicaciones |
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Artículo
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies
(Nature Portfolio, 2022)
To enhance the use of Whole Genome Sequencing (WGS) in clinical practice, it is still necessary to standardize data analysis ... |
Artículo
Protección fijada al microscopio quirúrgico frente a gotas y aerosoles emitidos en el transcurso de cirugías oculares durante la pandemia COVID-19
(Permanyer, 2021)
La COVID-19 (enfermedad por coronavirus 2019) nos plantea nuevos retos en nuestra rutina diaria. La última cifra publicada ... |
Artículo
Improved Tear Film Stability in Patients with Dry Eye After Hyaluronic Acid and Galactoxyloglucan Use
(2021)
Purpose: Artificial tears only provide transient relief for dry eye. To the best of our knowledge, this is the first study ... |
Artículo
Unusual clinical phenotype of Stargardt disease
(2021)
Mutations in the ABCA4 gene are a common cause of Stargardt disease; however, other retinal phenotypes have also been ... |
Artículo
Identification of a PROM1 mutation in a Spanish family with inherited retinal dystrophies
(Bentham Open, 2021)
Background: We report a Spanish family, comprising an affected mother and daughter, respectively diagnosed with retinitis ... |
Artículo
Protection secured to the surgical microscope against drops and aerosols generated during eye surgery in the course of the covid-19 pandemic
(Sociedad Mexicana de Oftalmología, 2020)
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Artículo
Keratograph 5M As A Useful And Objective Tool For Evaluating The Ocular Surface In Limbal Stem Cell Deficiency.
(2019)
Purpose: In limbal stem cell deficiency, both the Ocular Surface Disease Index (OSDI) questionnaire and tear break-up time ... |
Artículo
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases
(Nature Publishing Group, 2017)
Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy (IRD) characterized ultimately by ... |
Tesis Doctoral
Correlación y validación de criterios diagnósticos y escala de severidad en la insuficiencia limbar asistida con microscopia confocal
(2016)
INTRODUCCIÓN La Insuficiencia limbar (IL) es una enfermedad ocular debida a una disminución crítica de las células madre ... |
Artículo
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel
(Springer Nature, 2016)
Next-generation sequencing (NGS) has overcome important limitations to the molecular diagnosis of Inherited Retinal ... |