PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source
Experimental study on loading combination of filling body and surrounding rock. [PDF]
Li D +5 more
europepmc +1 more source
ABSTRACT The 2023 Australian Voice to Parliament Referendum presented a pivotal moment in the nation's democratic landscape. Despite support for Indigenous well‐being, the referendum did not secure the necessary approval, prompting extensive analysis of its outcome.
Scott Baum, William Mitchell
wiley +1 more source
Study on Failure Characteristics and Fracture Susceptibility of Surrounding Rock Under True Triaxial Stress. [PDF]
Liu C, Pan C, Zhao G, Wu X.
europepmc +1 more source
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin +5 more
wiley +1 more source
Experimental study of strength degradation in fractured surrounding rock of deep high-temperature tunnels. [PDF]
Jiang H, Zhang J, Wei G, Yu T.
europepmc +1 more source
The energy and stress evolution law of surrounding rock in gob side entry driving of adjacent mining faces. [PDF]
Hui ZL, Zhao ZQ, Wei XX, Yao-Li.
europepmc +1 more source
Influence of seam spacing and lateral pressure on deviatoric loading of the withdrawal roadway surrounding rock under the goaf. [PDF]
Chen D, Tang J, He W, Gao C, Zhang Z.
europepmc +1 more source
ABSTRACT Enhancing oil recovery (EOR) in mature reservoirs is hindered by high interfacial tension (IFT) and oil‐wet rock formations, especially under harsh, high‐salinity conditions. This study aims to overcome these limitations by synthesizing a novel carbon nanotube nanocomposite covalently grafted with polyethylenimine and non‐covalently ...
Mohamed Abu Shuheil +8 more
wiley +1 more source
Study on large deformation mechanism and surrounding rock control of entry in "three soft coal seam" of deep mine. [PDF]
Huang QX +7 more
europepmc +1 more source

