Browsing Centro de Biología Integrativa (CBI) by Subject "Ophthalmology"
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The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders
(ELSEVIER SCIENCE INC, 2019)Purpose: To develop a comprehensive next-generation sequencing panel assay that screens genes known to cause developmental eye disorders and inherited eye disease and to evaluate its diagnostic yield in a pediatric cohort ...