An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula +8 more
wiley +1 more source
Ex-Situ and In-Situ Hybrid Processing Opportunities in Metal Additive Manufacturing. [PDF]
Ramasamy V, Qu M, Lewandowski JJ.
europepmc +1 more source
Housing as Asset‐Based Welfare in Australia: An Investigation Through a Consumption Lens
ABSTRACT Housing asset‐based welfare has long been a key component of Australia's social policy. This resonates with a parallel literature identifying a trade‐off between homeownership and the size of nations' welfare states, wherein owner‐occupiers in smaller welfare states tend to come to rely on housing wealth to meet many of their welfare needs ...
Gavin A. Wood +3 more
wiley +1 more source
A Pneumatic Flexible Linear Actuator Inspired by Snake Swallowing. [PDF]
Qi Y +8 more
europepmc +1 more source
ABSTRACT Medieval and early modern drowned villages in the intertidal zone of the Scheldt estuary (the Netherlands) constitute intriguing yet largely understudied components of north‐western Europe's underwater cultural heritage. Despite their high archaeological potential as time capsules of past settlement landscapes, research has remained limited ...
Jan Trachet +9 more
wiley +1 more source
Phase Structure and Mechanical Properties of Epoxy Resin Modified with Hydroxyl-Terminated Poly(methylphenylsiloxane). [PDF]
He X +6 more
europepmc +1 more source
Regulatory harmonization: Evolution, globalization and future directions
Regulatory harmonization has become an increasingly important and accepted approach to streamline regulatory review processes and expedite access to safe, effective and high‐quality medicines globally. This review explores the evolution and current status of regulatory harmonization, convergence and reliance initiatives.
Orin Chisholm +2 more
wiley +1 more source
Multi-scale entropy analysis of acoustic emission for gearbox fault severity classification. [PDF]
Sánchez RV +6 more
europepmc +1 more source
Microstructure and Properties of Micro/Nano-Scale (TiB<sub>2</sub> + TiC)/Al Composites Prepared by Ti-B<sub>4</sub>C Reactive Sintering and Spark Plasma Sintering. [PDF]
Huang W, Li D, Wang R, Liu Y.
europepmc +1 more source
Abstract In early childhood education many researchers and professionals across the world have embraced the United Nations Convention on the Rights of the Child's requirement to include young children in decision‐making. In the context of ongoing discussion about young children's capacity to share their views and opinions about matters affecting them ...
Laura Lundy +3 more
wiley +1 more source

