Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51612
Abstract: Many individuals with muscular dystrophies remain genetically undiagnosed despite clinical diagnostic testing, including exome sequencing. Some may harbor previously undetected structural variants (SVs) or cryptic splice sites. We enrolled 10 unrelated families: nine had muscular… read more here.
Keywords: dystrophy; muscular dystrophy; read sequencing; capabilities nanopore ... See more keywords
What are the diagnostic capabilities of glycans for breast cancer?
Sign Up to like & getrecommendations! Published in 2023 at "Expert Review of Molecular Diagnostics"
DOI: 10.1080/14737159.2023.2173577
Abstract: Breast cancer is one of the most prevalent malignancies in women. Lack of early symptoms and reasonable diagnostic methods resulted in the late detection of this disease. Usually, breast cancer patients in early stages without… read more here.
Keywords: cancer; glycans breast; breast cancer; capabilities glycans ... See more keywords
Glaucoma diagnostic capabilities of macular vessel density on optical coherence tomography angiography: superficial versus deep layers
Sign Up to like & getrecommendations! Published in 2021 at "British Journal of Ophthalmology"
DOI: 10.1136/bjophthalmol-2020-318449
Abstract: Background/aims To compare glaucoma diagnostic capabilities of superficial and deep macular vessel density (mVD) parameters in a series of healthy and open-angle glaucoma (OAG) eyes with central visual field (CVF) loss. Methods We consecutively enrolled… read more here.
Keywords: glaucoma diagnostic; macular vessel; diagnostic capabilities; mvd parameters ... See more keywords