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Relationship of Circulating Fetuin-A Levels with Body Size and Metabolic Phenotypes
Published 2018-01-01Get full text
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Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter
Published 2025-01-01“…Combining homozygosity mapping and exome sequencing studies of consanguineous Bedouin kindred, as well as transfection experiments and zinc monitoring in HEK293 cells, we demonstrate that a bi‐allelic in‐frame 3bp deletion variant in SLC30A5, deleting isoleucine within the highly conserved cation efflux domain of the encoded ZnT5, results in lower cytosolic zinc concentrations, causing a syndrome of severe non‐progressive neonatal axial and limb hypotonia with high‐arched palate and respiratory failure. …”
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Neutrophil-to-lymphocyte ratio as a prognostic indicator in COVID-19: Evidence from a northern tanzanian cohort.
Published 2025-01-01“…The NLR cut-off value was determined using Receiver Operating Characteristic (ROC) analysis and assessed its predictive ability at admission for in-hospital mortality. The Chi-square test compared the proportion of NLR by patient characteristics. …”
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