Results 131 to 140 of about 168,381 (293)

New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri‐Weill Dyschondrosteosis

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SHOX gene haploinsufficiency is associated with Léri‐Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS) and could be caused by the structural and point mutations in the coding region and by the deletions in SHOX gene regulatory sequences. The role of the duplications in regulatory sequences is ambivalent.
Valeriia Kopytko   +3 more
wiley   +1 more source

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington   +2 more
wiley   +1 more source

Raspberry Viruses in the Czech Republic, with Identification of a Novel Virus: Raspberry Virus A. [PDF]

open access: yesViruses
Tan JL   +11 more
europepmc   +1 more source

Speech Biomarkers From Smartphone Calls Track Progression in REM Sleep Behavior Disorder and Parkinson's Disease

open access: yesAnnals of Neurology, EarlyView.
Objective This 24‐month longitudinal study involving isolated rapid eye movement sleep behavior disorder (iRBD), early‐stage Parkinson's disease (PD), and matched healthy control subjects aimed to assess whether acoustic speech features from real‐world smartphone calls provide passive progressive biomarkers in synucleinopathies.
Michal Šimek   +11 more
wiley   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

open access: yesAnnals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov   +42 more
wiley   +1 more source

Consumers' stance on food waste in the Czech Republic, Poland, and Slovakia

open access: gold, 2022
Naďa Hazuchová   +3 more
openalex   +1 more source

Home - About - Disclaimer - Privacy