Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo +7 more
wiley +1 more source
Spontaneous Regeneration of the Mandible after Hemimandibulectomy: Report of a Case
Mandibular defects may result from many conditions such as trauma, inflammatory diseases and tumors. There are rare cases reported in the literature that have demonstrated spontaneous bone regeneration after resection of the mandible.
A. Khodayari +5 more
doaj
Responsividade da escala de avaliação funcional do sentar e levantar do solo para distrofia muscular de Duchenne (FES-DMD - D4), no período de um ano [PDF]
Renata Escórcio
openalex +1 more source
Thermal stability of wavefront shaping using a DMD as a spatial light modulator
Benjamin Rudolf +4 more
openalex +1 more source
Mechanical stability in flexible perovskite solar cells: Interface engineering and device design
Statistics of the improvement methods for f‐PSCs. Abstract Flexible perovskite solar cells (f‐PSCs) demonstrate significant potential for application in next‐generation wearable electronic devices and photovoltaic building integration due to their high power conversion efficiency and excellent power‐to‐weight ratio. However, the inherent brittleness of
Hong‐Yi Hou +3 more
wiley +1 more source
Real-time Reconstruction of Comminuted Mandibular Fractures Using 3D Printing
Background:. Comminuted fractures of the jaws are complex injuries requiring special attention. In the past, treatment included closed reduction using maxillomandibular fixation. With advancements in technology and fixation systems, open reduction became
Dekel Shilo, DMD, PhD +6 more
doaj +1 more source
A novel mutation in N-terminal actin-binding domain of DMD presenting recurrent exertional rhabdomyolysis: a case report [PDF]
Jong‐Mok Lee
openalex +1 more source
Emerging Perovskite Solar Cells for Building‐Integrated Photovoltaic Applications
In this review, we discuss technological approaches of perovskite solar cells that are highly compatible with the requirements of building‐integrated photovoltaic applications, including semi‐transparent, colorful, and flexible perovskite solar cells.
Yongke Liang +4 more
wiley +1 more source
Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi +13 more
wiley +1 more source

