Discovery of over 200 new and expanded genetic conditions using GeneMatcher
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24351
Abstract: GeneMatcher is a platform through which various stakeholders can connect with others interested in candidate gene findings. GeneDx, a diagnostic laboratory, has utilized GeneMatcher over the last seven years to successfully facilitate connections between clinicians… read more here.
Keywords: expanded genetic; 200 new; new expanded; genematcher ... See more keywords
Exploration of the risk factor for infarction after revascularization in moyamoya disease
Sign Up to like & getrecommendations! Published in 2024 at "Annals of Medicine"
DOI: 10.1080/07853890.2024.2362872
Abstract: Abstract Objective Despite revascularization has been proven to be the optimal choice of moyamoya disease (MMD), many complications may occur in this context.. This study aimed to analyse the risk factors for new or expanded… read more here.
Keywords: new expanded; infarction; revascularization; risk factors ... See more keywords
Gaucher Disease: New Expanded Classification Emphasizing Neurological Features
Sign Up to like & getrecommendations! Published in 2019 at "Iranian Journal of Child Neurology"
DOI: 10.22037/ijcn.v13i1.21757
Abstract: Gaucher disease (GD) is a rare inherited metabolic disorder and the most common lysosomal storage disorder, caused by a deficiency in glucocerebrosidase enzyme activity. It has been classified according to the neurological manifestations into three… read more here.
Keywords: classification emphasizing; disease new; expanded classification; new expanded ... See more keywords