DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23955
Abstract: Nijmegen breakage syndrome caused by biallelic pathogenic variants of the DNA‐damage response gene NBN, is characterized by severe microcephaly, cancer proneness, infertility, and karyotype abnormalities. We previously reported NBN variants in siblings suffering from fertility… read more here.
Keywords: repair functional; dna repair; nbn related; functional analyses ... See more keywords
Functional mitral stenosis following mitral valve repair
Sign Up to like & getrecommendations! Published in 2017 at "Current Opinion in Cardiology"
DOI: 10.1097/hco.0000000000000364
Abstract: Purpose of review This review summarizes the evidence describing functional mitral stenosis (MS) following surgical mitral valve repair. Recent findings Functional MS is an evolving concept and has been implicated in the repair of functional… read more here.
Keywords: repair functional; mitral stenosis; functional mitral; mitral regurgitation ... See more keywords