Publications related to PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum

Related publications (31)

Reduced Training Data for Laser Ultrasound Signal Interpretation by Neural Networks

Romain Christophe Rémy Fleury, Janez Rus

The performance of machine learning algorithms is conditioned by the availability of training datasets, which is especially true for the field of nondestructive evaluation. Here we propose one reconfigurable specimen instead of numerous reference specimens ...

2024

Instabilities in Elastic and Magneto-Elastic Beams and Shells: from Shell Buckling to the Design of a Programmable Braille Reader

Arefeh Abbasi

In this thesis, we conduct a comprehensive investigation into structural instabilities of both elastic and magneto-elastic beams and shells, resulting in a creative proposal to design a programmable braille reader. Methodologically, we combine numerical si ...

EPFL2024

Experimental observation of topological transition in linear and nonlinear parametric oscillators

Romain Christophe Rémy Fleury, Benjamin Apffel

Parametric oscillators are examples of externally driven systems that can exhibit two stable states with opposite phase depending on the initial conditions. In this work, we propose to study what happens when the external forcing is perturbed by a continuo ...

2024

From defect to effect: controlling electronic transport in chevron graphene nanoribbons

Oleg Yazyev, Kristians Cernevics

While bottom-up synthesis allows for precise control over the properties of graphene nanoribbons (GNRs), the use of certain precursor molecules can result in edge defects, such as missing benzene rings that resemble a 'bite'. We investigate the adverse eff ...

IOP Publishing Ltd2023

Hemodynamic effects of a dielectric elastomer augmented aorta on aortic wave intensity: An in-vivo study

Yves Perriard, Yoan René Cyrille Civet, Thomas Guillaume Martinez, Armando Matthieu Walter, Francesco Clavica, Silje Ekroll Jahren

Dielectric elastomer actuator augmented aorta (DEA) represents a novel approach with high potential for assisting a failing heart. The soft tubular device replaces a section of the aorta and increases its diameter when activated. The hemodynamic interactio ...

2023

Defects in III-N LEDs: experimental identification and impact on electro-optical characteristics

Nicolas Grandjean, Jean-François Carlin, Camille Haller

III-N light-emitting-diodes (LEDs) are subject of intense investigations, thanks to their high efficiency and great reliability. The quality of the semiconductor material has a significant impact on the electro-optical performance of LEDs: for this reason, ...

SPIE-INT SOC OPTICAL ENGINEERING2022

Stoichiometry modulates the optoelectronic functionality of Zinc Phosphide (Zn3-xP2+x)

Diego Armando Sandoval Salaiza, Anna Fontcuberta i Morral, Jean-Baptiste Leran, Simon Robert Escobar Steinvall, Mahdi Zamani, Elias Zsolt Stutz, Rajrupa Paul, Mirjana Dimitrievska, Santhanu Panikar Ramanandan, Maria Chiara Spadaro, Mischa Samuel Flór

Predictive synthesis–structure–property relationships are at the core of materials design for novel applications. In this regard, correlations between the compositional stoichiometry variations and functional properties are essential for enhancing the perf ...

2022

Defect engineered nanostructured LaFeO3 photoanodes for improved activity in solar water oxidation

Xavier Pereira Da Costa, Kevin Sivula, Liang Yao, Mounir Driss Mensi, Nestor Guijarro Carratala, Yongpeng Liu

LaFeO3 (LFO) is recognized as a candidate material for solar water oxidation, but its photoelectrochemical response remains modest and stagnant. With the aim of advancing LFO photoanodes for the oxygen evolution reaction (OER), here, a nanorod array-type e ...

Royal Society of Chemistry2021

Computational methods for live heart imaging with speed-constrained microscopes

Olivia Mariani

Imaging methods to capture the beating and developing heart inside embryonic animal models such as the zebrafish are a key component for the study of fundamental biological processes such as cardiac birth defects or tissue regeneration. However, live heart ...

EPFL2021

Altered anterior default mode network dynamics in progressive multiple sclerosis

Dimitri Nestor Alice Van De Ville, Maria Giulia Preti, Anjali Bagunu Tarun, Younes Farouj

Background: Modifications in brain function remain relatively unexplored in progressive multiple sclerosis (PMS), despite their potential to provide new insights into the pathophysiology of the disease at this stage. Objectives: To characterize the dynamic ...

SAGE PUBLICATIONS LTD2021

Effects of quantum-well indium content on deep defects and reliability of InGaN/GaN light-emitting diodes with under layer

Nicolas Grandjean, Jean-François Carlin, Camille Haller

We investigate the density of defects and the degradation rate in InGaN light-emitting diodes having identical dislocation density and epitaxial structure, but different indium content in the quantum well (QW; 12%, 16%, 20%). Our results, based on combined ...

IOP PUBLISHING LTD2021

A dynamic scheduling tool and a methodology for creating digital twin of manufacturing systems for achieving Zero Defect Manufacturing

Foivos Psarommatis Giannakopoulos

Nowadays manufacturing environment is highly volatile and rapidly changing as the need of products is increasing exponentially, due to the fact that Product Life Cycle is shortened and therefore more products are required to be manufactured or remanufactur ...

EPFL2021

Improving delamination resistance through tailored defects

John Botsis, Niels Pichler

Delamination is a well-known damage mode exhibited by laminated composites which has been extensively studied in unidirectional laminates (UD). In this work, a novel strategy consisting of the introduction of a small interlaminar defect to enhance the frac ...

2020

Finite-size corrections of defect energy levels involving ionic polarization

Alfredo Pasquarello, Julia Anna Wiktor, Stefano Falletta

We develop a scheme for finite-size corrections of vertical transition energies and single-particle energy levels involving defect states with built-in ionic polarization in supercell calculations. The method accounts on an equal footing for the screening ...

2020

Identifying and Tracking Defects in Dynamic Supramolecular Polymers

Michele Ceriotti, Piero Gasparotto

A central paradigm of self-assembly is to create ordered structures starting from molecular monomers that spontaneously recognize and interact with each other via noncovalent interactions. In recent years, great efforts have been directed toward perfecting ...

AMER CHEMICAL SOC2020

GaAs nanoscale membranes: prospects for seamless integration of III-Vs on silicon

Anna Fontcuberta i Morral, Gözde Tütüncüoglu, Martin George Friedl, Luca Francaviglia, Nicholas Paul Morgan

The growth of compound semiconductors on silicon has been widely sought after for decades, but reliable methods for defect-free combination of these materials have remained elusive. Recently, interconnected GaAs nanoscale membranes have been used as templa ...

2020

The Transcription Factor Nfix Requires RhoA-ROCK1 Dependent Phagocytosis to Mediate Macrophage Skewing during Skeletal Muscle Regeneration

Giuliana Rossi

Macrophages (MPs) are immune cells which are crucial for tissue repair. In skeletal muscle regeneration, pro-inflammatory cells first infiltrate to promote myogenic cell proliferation, then they switch into an anti-inflammatory phenotype to sustain myogeni ...

2020

Template-assisted electrodeposition of nickel and nickel copper 3D microcomponents

Patrik Schürch

New types of metamaterials and architectured material require metallic materials with precise structural design in the microscale. However, additivemanufacturing of metallic structures in themicroscale has proven difficult, as the demand for the material q ...

EPFL2020

Increasing N content in GaNAsP nanowires suppresses the impact of polytypism on luminescence

Anna Fontcuberta i Morral, Luca Francaviglia

Cathodoluminescence (CL) and micro-photoluminescence spectroscopies are employed to investigate effects of structural defects on carrier recombination in GaNAsP nanowires (NWs) grown by molecular beam epitaxy on Si substrates. In the NWs with a low N conte ...

2019

Vertical Ionization Energies and Electron Affinities of Native and Damaged DNA Bases, Nucleotides, and Pairs from Density Functional Theory Calculations: Model Assessment and Implications for DNA Damage Recognition and Repair

Ursula Röthlisberger, Ivano Tavernelli, Polydefkis Diamantis

To assess the effect of an 8-oxoguanine (8OG) defect base on the vertical ionization energies (VIEs) and electron affinities (VEAs) of DNA, density functional theory calculations were carried out for native and defect DNA bases and nucleotides, as well as ...

2019