Identification of a new frameshift homozygous variant of PEX3 gene in a preterm infant with profound global developmental delay and bilateral ptosis: a case report and updated literature review. [PDF]
Su J, Tao Y, Zhang L, Luo J.
europepmc +1 more source
High‐Efficiency Deep Blue Single‐Gaussian Europium(II) Emitters and Their Emitter‐Host Interactions
Crown‐ether ligands and carborate anions enable vacuum‐processable Eu(II) emitters with efficient single‐Gaussian deep‐blue luminescence. Combined photophysical and computational analyses reveal that excited‐electron confinement and steric shielding of the europium center jointly govern compatibility with OLED host materials, establishing molecular ...
Mahmoud Soleimani +8 more
wiley +1 more source
A Case Report: Identification of a Pathogenic Microdeletion at Chromosome 21q21.3q22.13 Using Whole-Exome Sequencing and CNV Analysis in a Moroccan Child with Global Developmental Delay. [PDF]
Jouali F +5 more
europepmc +1 more source
Cell therapies typically rely on cold‐chain logistics and cryopreservation, limiting access and compromising cell quality. Here, a dual‐chamber device separates an oxygen‐supplying chamber from a hyaluronic acid cargo chamber, sustaining oxygen delivery for over 70 h and enabling ambient‐temperature shipment.
Daniel A. Domingo‐Lopez +9 more
wiley +1 more source
Global developmental delay: comparison of developmental profiles between gene-positive/suspicious positive and gene-negative cases. [PDF]
Shan L +7 more
europepmc +1 more source
The mantis shrimp telson reveals how ridged biological shields control deformation under impact. Inspired by this architecture, telson‐inspired ridged curved shells transform ridge geometry and macroscopic curvature into bidirectional snap‐through, tunable stiffness, and enhanced hysteretic energy dissipation for multifunctional architected materials ...
Phani Saketh Dasika +5 more
wiley +1 more source
Very rare Palestinian case report of PRUNE1 p.Asp106Asn mutation: a mutation of global developmental delay. [PDF]
Idkaidak S +4 more
europepmc +1 more source
Conversion‐induced sulfur expansion generates strong mechanical constraints and localized stresses within solid‐state Li‐S cathodes. Heterogeneous solid‐electrolyte confinement creates tensile strain‐energy hotspots that govern particle cracking. Larger sulfur particles accelerate fracture, while higher porosity relaxes constraint and delays damage ...
Arpan K. Sharma +3 more
wiley +1 more source
Efficient recovery from traumatic or degenerative diseases is a great challenge, even after all the advancements in bone and cartilage regeneration. Machine learning (ML) algorithms have presented opportunities to enhance these aspects by accurately analyzing imaging data.
Maryam Kamaei +9 more
wiley +1 more source
A novel loss-of-function KCNB1 gene variant in a twin with global developmental delay and seizures. [PDF]
Manville RW +4 more
europepmc +1 more source

