Results 61 to 70 of about 16,800 (209)
ABSTRACT Child protection supervisors face a difficult task in ensuring high reliability in handling cases of suspected child maltreatment and thus safeguarding children at any time. During the COVID‐19 pandemic, social life and workflow organisation underwent significant changes within a short period.
Susanne Witte +3 more
wiley +1 more source
The coffin-reliquary for the relics of the holy Serbian king Stefan Uroš III of Dečani has been made around 1343 as a rectangular chest with a gable cover.
Milan Gavrilović +6 more
doaj +1 more source
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau +7 more
wiley +1 more source
Non‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions
Exome sequencing identified a diagnosis in 35% of 91 individuals with non‐isolated Dandy Walker malformation (DWM+). Only 24%–55% of these diagnoses could be made using a gene panel. We then demonstrated that DWM is a feature of disorders associated with ANKRD11, C2CD3, COL4A1, KMT2D, KRAS, OPHN1, SHOC2, SMARCB1, and WDR73.
Sarah Araji +4 more
wiley +1 more source
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru +16 more
wiley +1 more source
Abstract Background Flexion tests are commonly used in equine locomotion examinations to identify underlying locomotor issues, yet their neuromuscular effects remain poorly understood. Response variability raises concerns about their clinical value in lameness assessments and pre‐purchase evaluations.
Marijke Jonkhart +4 more
wiley +1 more source
Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report
Introduction We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature.
Shukla Umesh +3 more
doaj +1 more source
ABSTRACT Aim To explore midwives' experiences of providing psychosocial interventions to parents following perinatal bereavement in maternity care settings. Design A descriptive qualitative study. Methods Twenty‐two midwives were recruited from three maternity services in Ireland using purposive and snowball sampling.
Jiaying Xie +3 more
wiley +1 more source
ABSTRACT Background Family members' involvement in the care for their relative often continues after their relative has moved out of the family home. However, little is known about the needs of family members when collaborating specifically with support staff caring for their relative.
Frances R. Vereijken +3 more
wiley +1 more source
Arboviral diseases spread by Culicoides biting midges have been introduced into Europe by unknown means. A possible route is the carriage of midges with cut flowers shipped to flower markets. We sampled Culicoides in and around a cut flower farm in Kenya; midges were caught in the vicinity and a greenhouse, but not where flowers are processed.
Jessica Eleanor Stokes +3 more
wiley +1 more source

