Results 271 to 280 of about 150,878 (313)

‘I Do Not Feel Great About It, but It Was the Logical Decision’—An Exploration of Why England's Agency Social Workers Have Left Permanent Child Protection Roles

open access: yesChild &Family Social Work, EarlyView.
ABSTRACT In 2023, England's statutory children's services recorded the highest number of agency social workers since records began. The cost of these workers, and the impact of an unsettled workforce on the children in receipt of their services, has led to a new set of national rules for agency social workers in children's social care.
Ciarán Murphy
wiley   +1 more source

Efficacy and Safety of Current Interventions for High Myopia Control in Children: A Systematic Review and Network Meta-Analysis

open access: green
Li Li   +17 more
openalex   +1 more source

HYPK‐Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features

open access: yesClinical Genetics, EarlyView.
We present the first published case of HYPK‐related neurodevelopmental disorder in a male proband with atypical facies, developmental delay, and autism spectrum disorder– like features. HYPK is a part of the NatA complex, like NAA10 and NAA15, with dysfunction leading to similar but milder features to those of Ogden Syndrome.
Rahi Patel   +10 more
wiley   +1 more source

A Novel Homozygous Nonsense Pathogenic Variant of the CPAMD8 Gene Associated With Congenital Microcoria

open access: yesClinical Genetics, EarlyView.
A novel CPAMD8 nonsense mutation c.2679C>G (p.Tyr893*) was identified in a patient with congenital microcoria, leading to reduced mRNA expression and predicted protein truncation. ABSTRACT Congenital microcoria (MCOR) is a rare inherited ocular disorder. Here, we describe a novel nonsense variant in the CPAMD8 gene in a patient with MCOR.
Jing‐Fan Gao   +4 more
wiley   +1 more source

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series

open access: yesClinical Genetics, EarlyView.
Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart   +17 more
wiley   +1 more source

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