Results 211 to 220 of about 704,019 (386)

Clinlabomics‐Enabled Blending Ensemble Learning for Low‐Cost Pan‐Cancer Detection and Classification Using Routine Clinical Laboratory Data

open access: yesAdvanced Intelligent Systems, EarlyView.
Researchers develop clinlabomics assisted for cancer identification, an artificial intelligence‐powered system using routine clinical lab data to detect and identify 10 cancer types. Tested on 19 199 individuals, it achieves 90.39% sensitivity and 82.41% specificity in cancer detection, with 72.57% accuracy in identifying specific cancer types ...
Bowen Zhang   +9 more
wiley   +1 more source

Early Enzyme Replacement Therapy Does Not Prevent the Protein Losing Enteropathy Syndrome in Neurovisceral Gaucher Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder characterized by multisystemic involvement. With the advent of enzyme replacement therapy (ERT), patient survival has improved, revealing new long‐term complications. We report a case of a 4‐year‐old male with severe neurovisceral GD who developed protein‐losing enteropathy (PLE ...
Vincenza Gragnaniello   +7 more
wiley   +1 more source

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell   +21 more
wiley   +1 more source

Loss-of-function mutations in APOC3, triglycerides, and coronary disease.

open access: yesNew England Journal of Medicine, 2014
Jacy R. Crosby   +85 more
semanticscholar   +1 more source

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