Results 191 to 200 of about 384,008 (281)

First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia. [PDF]

open access: yesFront Immunol
Marakhonov A   +36 more
europepmc   +1 more source

Vascularized Cardiac Tissue Engineering: From Advances in Biofabrication to Translational Applications

open access: yesAdvanced Science, EarlyView.
This review presents a process‐oriented framework for vascularized cardiac tissue engineering, highlighting how the coordinated design of cells, biomaterials, and biofabrication strategies enables the functional development or vascularized myocardium for disease modelling and drug discovery.
Yang Liu   +9 more
wiley   +1 more source

Gel‐Amin for Improving Extracellular Recordings of Cardiomyocytes in a 3D Microphysiological System

open access: yesAdvanced Electronic Materials, EarlyView.
This work combines a conductive collagen‐based hydrogel with a laser‐cut and assembly technique to fabricate microphysiological systems that improve extracellular recordings of cardiomyocytes in 3D on microelectrode arrays. The inclusion of choline acrylate into GelMA imparts a higher electrical conductivity and improves the signal‐to‐noise ratio of on‐
Dominic Pizzarella   +4 more
wiley   +1 more source

Impact of foetal growth restriction and being born small for gestational age on newborn echo- and electrocardiographic measurements-a Copenhagen baby heart study. [PDF]

open access: yesEur Heart J Open
Nørskov EH   +12 more
europepmc   +1 more source

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler   +5 more
wiley   +1 more source

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

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly   +3 more
wiley   +1 more source

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