Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda. [PDF]
Uwibambe E+11 more
europepmc +1 more source
Hybrid Encoder for Discrete and Continuous Variable QKD
This work demonstrates a hybrid QKD encoder that bridges the advantages of discrete and continuous variables. Utilizing a self‐compensating iPOGNAC design, the encoder is compatible with space‐based and terrestrial quantum networks. The approach simplifies system complexity, improves stability, and ensures cost‐effective integration, paving the way for
Mattia Sabatini+4 more
wiley +1 more source
Identification of Leaf Stripe Resistance Genes in Hulless Barley Landrace Teliteqingke from Qinghai-Tibet Plateau. [PDF]
Tan Z+5 more
europepmc +1 more source
A Framework to Enable Eco‐Cyber‐Physical Systems for Robotics‐Focused Digital Twins in Smart Farming
ABSTRACT This paper introduces the R‐ECPS (Robotics‐focused Eco‐Cyber‐Physical System) framework for the development of robotics‐enabled digital twins, integrating human knowledge into the decision‐making process. Our framework adapts ECPS and Digital Twin (DT) definitions to agricultural field robotics.
Fiorella Sibona+7 more
wiley +1 more source
Insights on the Shared Genetic Landscape of Neurodevelopmental and Movement Disorders. [PDF]
Indelicato E, Zech M, Eberl A, Boesch S.
europepmc +1 more source
Threshold Concepts and Concept Networks in Evolution Education: An Experimental Intervention Study
ABSTRACT This study analyzes the effect of different instructions on threshold concepts within material covering natural selection on students' use of concepts about evolution. Moreover, it examines students' use of concepts as interconnected networks when reasoning about natural selection and analyzes how these concepts relate to each other regarding ...
Helena Aptyka+2 more
wiley +1 more source
Multiple Keratoacanthomas Associated with Genetic Syndromes: Narrative Review and Proposal of a Diagnostic Algorithm. [PDF]
Dobre A+13 more
europepmc +1 more source
ABSTRACT The study of synergies and trade‐offs among the Sustainable Development Goals (SDGs) has captured growing scientific interest. However, how scientific knowledge addressing multiple SDGs emerges and contributes to improving synergies and addressing trade‐offs remains unclear.
Oscar Yandy Romero‐Goyeneche+2 more
wiley +1 more source
Digenic variant interpretation with hypothesis-driven explainable AI. [PDF]
De Paoli F+8 more
europepmc +1 more source
Nature Inspired Delivery Vehicles for CRISPR‐Based Genome Editing
The review highlights nature‐inspired nanocarriers for CRISPR delivery, emphasizing viral vectors, extracellular vesicles, liposomes, and lipid nanoparticles. It discusses their roles in improving specificity, minimizing immunogenicity, and overcoming barriers in genome editing. Recent advancements, challenges, and therapeutic applications are explored,
Elizabeth Maria Clarissa+4 more
wiley +1 more source