Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Sign Up to like & getrecommendations! Published in 2017 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2017.09.018
Abstract: Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known… read more here.
Keywords: kidney; exome wide; case subjects; association ... See more keywords
How Well Does CAPTURE Translate?: An Exploratory Analysis of a COPD Case‐Finding Method for Spanish‐Speaking Patients
Sign Up to like & getrecommendations! Published in 2017 at "Chest"
DOI: 10.1016/j.chest.2017.03.047
Abstract: BACKGROUND: This study tested the properties of a Spanish translation of CAPTURE (COPD Assessment in Primary Care To Identify Undiagnosed Respiratory Disease and Exacerbation Risk) with selective use of peak expiratory flow (PEF). METHODS: :… read more here.
Keywords: pef; case subjects; case; copd ... See more keywords