Concepedia
Statistics
Publications
4
Citations
192
H-Index
Active since
2015
Affiliations
Instituto de Salud Carlos III(Current)
Hospital Universitario Fundación Jiménez Díaz
Centre for Biomedical Network Research on Rare Diseases
Universidad Autónoma de Madrid
Noelia Sanchez-Bolivar is an author at Instituto de Salud Carlos III specializing in endocrinology, genetics, and ophthalmology.
Top concepts
GeneticsMedicineGynecologyPhysiologyEndocrinologyNeurogeneticsOphthalmologyPublic HealthGenetic DiseasesGenetic Medicine
Publications per year
2015–2018
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
Raquel Pérez-Carro, Marta Cortón, Iker Sánchez‐Navarro et al. · Scientific Reports · 2016 · 62 citations · Full text
Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients
Patrícia José, Marta Cortón, Fiona Blanco‐Kelly et al. · Investigative Ophthalmology & Visual Science · 2015 · 51 citations
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice
Rocío Sánchez-Alcudia, Maria García‐Hoyos, Miguel Ángel López-Martínez et al. · PLoS ONE · 2016 · 46 citations · Full text
Ocular Disease, Genetics, Genetic Epidemiology +28
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
Iker Sánchez‐Navarro, Luciana R. J. da Silva, Fiona Blanco‐Kelly et al. · Scientific Reports · 2018 · 33 citations · Full text
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