Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy
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DOI: 10.1155/2017/3080245
Abstract: Familial exudative vitreoretinopathy (FEVR) is a complex disorder characterized by incomplete development of the retinal vasculature. Here, we report the results obtained on the spectrum of genetic variations and correlated phenotypes found in a cohort… read more here.
Keywords: exudative vitreoretinopathy; genotype phenotype; phenotype characterization; familial exudative ... See more keywords
Phenotype characterization of non-cystic fibrosis bronchiectasis in India
Sign Up to like & getrecommendations! Published in 2017 at "European Respiratory Journal"
DOI: 10.1183/1393003.congress-2017.pa4058
Abstract: Background: The Indian Bronchiectasis registry is an extension of EMBARC Registry started in 2015 by Respiratory Research Network of India to get better insights into its demographics, aetiology, co-morbidities and treatment practices in India. Methods:… read more here.
Keywords: bronchiectasis; phenotype characterization; bronchiectasis india; characterization non ... See more keywords