The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated 16/11/2018 Artículos
The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases 16/11/2018 Artículos
The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases 16/11/2018 Artículos
The pulmonary vasculature-lessons from Tibetans and from rare diseases of oxygen sensing 16/11/2018 Artículos
The Rare Diseases Clinical Research Network Contact Registry update: features and functionality 16/11/2018 Artículos
The Rare Diseases Clinical Research Network’s organization and approach to observational research and health outcomes research 16/11/2018 Artículos
The NIH Office of Rare Diseases Research patient registry Standard: a report from the University of New Mexico’s Oculopharyngeal Muscular Dystrophy Patient Registry 16/11/2018 Artículos
The Orphan Drug Act and the development of stem cell-based products for rare diseases 16/11/2018 Artículos
