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RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
The move to open: medical library leadership in scholarly communication. [PDF]
Shaffer C.
europepmc +1 more source
Health Information for the Global Village. 95th Annual Meeting of the Medical Library Association (MLA) and 7th International Congress on Medical Librarianship (ICML), Washington, DC, USA, 7–12 May 1995 [PDF]
T. Mark Hodges
openalex +1 more source
ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng +4 more
wiley +1 more source
Shannon D. Jones, MLS, MEd, AHIP, FMLA, Medical Library Association President, 2022-2023. [PDF]
Bartley K +3 more
europepmc +1 more source

