Results 161 to 170 of about 34,360 (284)

Relational Wellbeing Amongst Care‐Experienced Young People in Transition in the Context of Covid 19

open access: yesChild &Family Social Work, EarlyView.
ABSTRACT Care‐experienced young people typically negotiate the transition to adulthood at a younger age than their peers in the general population and with less reliable access to support. Concerns have been raised that Covid 19 exacerbated the challenges they faced and widened the ‘care‐gap’.
Emily R. Munro, Seana Friel, Amy Lynch
wiley   +1 more source

Hand, Foot, and Mouth Disease Caused by Coxsackievirus A6

open access: yesEmerging Infectious Diseases, 2012
Kelly Flett   +11 more
doaj   +1 more source

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures

open access: yesClinical Genetics, EarlyView.
A novel rare variant of the OFD1 gene was identified in a family with dental hypoplasia, facial hypoplasia, and adult‐onset multiple atypical fractures of long bones. Another variant of the OFD1 gene was found in a woman with bisphosphonate‐associated atypical femur fracture.
Marie‐Ève Boisvert   +12 more
wiley   +1 more source

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long‐Read Sequencing

open access: yesClinical Genetics, EarlyView.
Pathogenic IGF2 variants on the paternal allele can cause Silver–Russell syndrome, with highly variable growth and neurodevelopmental outcomes. Long‐read sequencing can determine the parental origin of de novo IGF2 variants via methylation patterns without parental samples, improving diagnostics for imprinted genes.
Trine Maxel Juul   +10 more
wiley   +1 more source

Spatiotemporal epidemiology and SARIMA-based forecasting of hand, foot, and mouth disease outbreak clusters in Beijing, 2019-2024. [PDF]

open access: yesBMC Infect Dis
Zhao H   +12 more
europepmc   +1 more source

Pathogenicity of NUSAP1 Variants Is Defined by NMD‐Escape: Evidence From Two Novel Cases and Systematic Population‐Based Variant Analysis

open access: yesClinical Genetics, EarlyView.
Heterozygous de novo nonsense variants in the penultimate and last exons of NUSAP1 were identified in two unrelated individuals, predicted to escape NMD. In population data, nonsense variants were observed in exons 1–9 (of 11) in NUSAP1 but were absent from its 3′‐terminal region.
Maureen Jacob   +15 more
wiley   +1 more source

A Familial Case of Thauvin–Robinet–Faivre Syndrome (TROFAS), Presenting With Postaxial Polydactyly and Upper Lip Vascular Malformation

open access: yesClinical Genetics, EarlyView.
These two siblings carrying the homozygous FIBP c.412‐3_415dupCAGTTTG variant, previously identified in several Turkish families, further delineate the clinical spectrum of TROFAS. Postaxial polydactyly and an upper lip vascular malformation, observed in Patient 2, have not previously been reported in association with this syndrome.
Federica Ruscitti   +9 more
wiley   +1 more source

Home - About - Disclaimer - Privacy