Biallelic <i>EZH1</i> Nonsense Novel Variant in Two Siblings with Neurodevelopmental Disorder and Central Precocious Puberty: A Case Report from a Consanguineous Saudi Family. [PDF]
Int J Mol SciBaity M +9 more
europepmc +1 more source
Corporate Social Responsibility and Environmental Management, EarlyView.ABSTRACT This article explores how practitioners perceive the effects of digital transformation on ISO 14001 audits and on the competencies required to conduct them remotely. The study draws on 35 semi‐structured interviews with representatives of ISO‐14001‐certified organizations, external auditors, and consultants. While few studies have examined the
Nadjet Tebbal +2 more
wiley +1 more source
Case Report: Differential outcomes associated with the same pathogenic variant: long-term follow-up of a CHARGE syndrome case with a nonsense mutation c.6292C>T in the CHD gene. [PDF]
Front GenetWang QY, Huang JJ, Wang FC, He JW.
europepmc +1 more source
Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle
Developmental Dynamics, EarlyView.Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell +3 more
wiley +1 more source
Prenatal diagnosis of glucose-6-phosphatase catalytic subunit 3 deficiency (Dursun syndrome) using whole-exome sequencing: A case report of severe fetal cardiomyopathy in a consanguineous family. [PDF]
J Int Med ResGhazali SM, Bader RS.
europepmc +1 more source
Zebrafish inversin mutants develop scoliosis in the absence of laterality defects
Developmental Dynamics, EarlyView.Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick +3 more
wiley +1 more source
International Journal of Eating Disorders, EarlyView.ABSTRACT Objectives There is an increasing trend towards embedding consumer and community involvement in all health and medical research. The Executive Committee of the International Journal of Eating Disorders (IJED) disseminated a survey for eating disorder researchers investigating their practices and perspectives regarding Patient and Public ...
Tracey D. Wade +8 more
wiley +1 more source
Ecography, EarlyView.Systematic conservation planning provides a science‐based framework for defining conservation goals and supporting transparent spatial decision‐making under limited resources. Within this framework, spatial conservation prioritisation tools are widely used to identify areas of high biodiversity value by integrating information on species distributions,
Thiago Cavalcante +3 more
wiley +1 more source
Robust performance of culture, real-time PCR, and genomic approaches for shigella serotyping in a pediatric surveillance cohort. [PDF]
PLoS Negl Trop DisSchiaffino F +11 more
europepmc +1 more source
Environmental Policy and Governance, EarlyView.ABSTRACT Global leadership in phasing out fossil fuels is an important new frontier in climate governance, yet remains undertheorised within existing scholarly accounts of climate leadership. In this paper, we argue that ‘phaseout leadership’—climate leadership centred on curtailing fossil fuel supply—is a distinct kind of leadership that dominant ...
Freddie Daley +2 more
wiley +1 more source