Results 201 to 210 of about 238,616 (363)

Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening

open access: yesMolecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023
This work describes our cross‐disciplinary experience identifying and evaluating 12 patients for clinical, biochemical, and familial features of Hypophosphatasia (HPP) from a retrospective database review of expanded carrier screening (ECS) results in our center.
Natalie M. Beck   +9 more
wiley   +1 more source

Artificial Intelligence in Healthcare: Balancing Technological Innovation With Health and Care Workforce Priorities

open access: yesThe International Journal of Health Planning and Management, EarlyView.
ABSTRACT Artificial Intelligence (AI) has emerged as a transformative force in healthcare, offering significant potential to address workforce challenges and improve patient outcomes. This perspective article presents a framework for responsible AI innovation, emphasising ethical governance, responsible leadership and a commitment to human‐centred AI ...
Abi Sriharan   +6 more
wiley   +1 more source

Estimate of genetic variants using CNV‐Seq for fetuses with oligohydramnios or polyhydramnios

open access: yesMolecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023
The overall detection rate of clinically significant findings was 8%, with 5.0% in the isolated group and 11.0% in non‐isolated group. Non‐isolated group especially oligohydramnios subgroup is inclined to obtained more pathogenicity genetic anomalies and to terminate their pregnancy outcome.
Panlai Shi   +5 more
wiley   +1 more source

From Apathy to Allyship: Does Discrimination Awareness Received From Cross‐Race Friends Facilitate Racial Allyship at Work?

open access: yesHuman Resource Management, EarlyView.
ABSTRACT Leveraging theories from the friendship, contact, and collective action literatures we examine the effects of a unique learning function of cross‐race friendships—discrimination awareness—on workplace allyship. Using field and experimental designs, we found that this function of cross‐race friendships creates a sense of moral outrage that ...
Belle Rose Ragins, Kyle Ehrhardt
wiley   +1 more source

Compound heterozygous loss‐of‐function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome

open access: yesMolecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023
Trio‐based whole‐exome sequencing (WES) and Sanger sequencing identified a novel splicing mutation c.431‐2A>G and a heterozygous truncating mutation c.1359_1361del in BRAT1 in the proband. In addition, our research demonstrated the intronic mutation could lead to aberrant mRNA splicing and further contributed to a better understanding and establishment
Shan Li   +5 more
wiley   +1 more source

Does immediate skin‐to‐skin contact at caesarean sections promote uterine contraction and recovery of the maternal blood haemoglobin levels? A randomized clinical trial

open access: yesNursing Open, Volume 10, Issue 2, Page 649-657, February 2023., 2023
Abstract Aim We analysed whether immediate skin‐to‐skin contact between the healthy newborn and the mother after a caesarean section has a modulatory role on postpartum haemorrhage and uterine contraction. Design Unblinded, randomized clinical trial, simple random sampling, conducted in women undergoing caesarean sections.
José Miguel Pérez‐Jiménez   +4 more
wiley   +1 more source

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