Bioinformatic Multi-Strategy Profiling of Congenital Heart Defects for Molecular Mechanism Recognition. [PDF]
de Oliveira FG+4 more
europepmc +1 more source
What About Eco‐Populism? A Neglected Historical Tradition
Constellations, EarlyView.
Federico Tarragoni
wiley +1 more source
ABSTRACT Aim This study assessed whether pulse oximetry screening was associated with maternal and newborn characteristics or predicted the need for early medical attention. Congenital heart defects (CHDs) were also monitored. Methods Pulse oximetry screening was performed during delivery room discharge on 638/698 (91.4%) consecutive live‐born infants ...
Krista Taivassalo+3 more
wiley +1 more source
Introduction to “Laboring from ex‐centric Sites: Disability, Chronicity, and Work”
ABSTRACT The transition to industrial regimes has produced new categories of people deemed “unfit” for labor. Even if these boundaries are more porous nowadays, contributions to this Special Issue reveal continuities in how people struggle for a place in domains of work that are ill‐shaped to accommodate their diverse bodyminds.
Giorgio Brocco, Stefanie Mauksch
wiley +1 more source
Perspectives of Challenges in Counseling for Congenital Heart Defects. [PDF]
Woo JL+11 more
europepmc +1 more source
Congenital heart defects in children born after assisted reproductive technology: a CoNARTaS study. [PDF]
Sargisian N+12 more
europepmc +1 more source
Opioid receptors in cardiovascular function
Opioid receptors are G protein‐coupled receptors expressed by various cells in the heart, including myocytes and nerve fibres, and play a crucial role in modulating cardiac function. These receptors influence neural transmission, heart rate and myocyte contractility, offering cardioprotection.
Venkatesh Katari+4 more
wiley +1 more source
Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut+7 more
wiley +1 more source
A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au‐Kline Syndrome
Integrated genomic and epigenomic analyses, associated with functional studies, confirm the pathogenicity of a novel HNRNPK variant in Au‐Kline syndrome (AKS). Our study underscores the value of DNA methylation signatures in variant interpretation, enhancing accurate diagnosis and clinical management of rare neurodevelopmental disorders.
Maura Mingoia+16 more
wiley +1 more source
Databases for Congenital Heart Defect Public Health Studies Across the Lifespan
Tiffany J. Riehle‐Colarusso+14 more
doaj +1 more source