Results 181 to 190 of about 1,240,940 (339)

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe   +22 more
wiley   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman   +15 more
wiley   +1 more source

Hydrogen Sulfide Increases Production of NADPH Oxidase-Dependent Hydrogen Peroxide and Phospholipase D-Derived Phosphatidic Acid in Guard Cell Signaling1

open access: yesPlant Physiology, 2018
Denise Scuffi   +7 more
semanticscholar   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady   +10 more
wiley   +1 more source

Pancreatic Mucinous Cystic Neoplasms Following GLP-1 Receptor Agonists Use: A Report of Two Cases with Literature Review. [PDF]

open access: yesJ Gastrointest Cancer
Alsaleh NM   +9 more
europepmc   +1 more source

‘People Need to Understand That They Are Stealing From Their Neighbours’: A Critical Media Analysis of the Representations and Resistance Throughout the Robodebt Scheme

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT The Robodebt scheme issued thousand‐dollar debts to an estimated half a million people who had received social security. The debts were largely inaccurate and illegal, with the aim of improving the federal government's budget. The 2023 Royal Commission into the Robodebt Scheme found that the stigmatising political and public language about ...
Ella Kruger, Phillipa Evans
wiley   +1 more source

Changing the guard [PDF]

open access: yesThrombosis Research, 2016
Marc, Rodger, Henri H, Versteeg
openaire   +2 more sources

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