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

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Publications associées (31)

Spinning operators and defects in conformal field theory

Marco Meineri

We study the kinematics of correlation functions of local and extended operators in a conformal field theory. We present a new method for constructing the tensor structures associated to primary operators in an arbitrary bosonic representation of the Loren ...

Springer Nature2019

Lean synthesis and application to lower-limb exoskeletons

Tristan Hubert Vouga

Mobility impairments are the most prevalent of all disabilities, affecting the life of nearly one in 20 individuals in developed countries. In the most severe cases, they can have dramatic consequences for the social, mental and physical well-being of thos ...

EPFL2019

Template-assisted grown III-V semiconductor nanowires: A transmission electron microscopy study

Nicolas Bologna

III-V semiconductor nanowires are, due to their unique properties, one of the most promising nanostructures developed in the last decades. However, the realization of commercial devices made of III-V nanowires, such as transistors and solar cells, has not ...

EPFL2019

Waveguide-Based Platform for Large-FOV Imaging of Optically Active Defects in 2D Materials

Aleksandra Radenovic, Suliana Manley, Jean Camille Benjamin Comtet, Martina Lihter, Anna Archetti, Juan Francisco Gonzalez Marin, Evgenii Glushkov, Anton Stroganov, Vytautas Navikas, Mukeshchand Thakur

Single-molecule localization microscopy (SMLM) is a powerful tool that is routinely used for nanoscale optical imaging of biological samples. Recently, this approach has been applied to study optically active defects in two-dimensional (2D) materials. Such ...

AMER CHEMICAL SOC2019

Self-consistent site-dependent DFT plus U study of stoichiometric and defective SrMnO3

Ulrich Aschauer, Nicola Marzari, Matteo Cococcioni, Iurii Timrov

We propose a self-consistent site-dependent Hubbard U approach for density functional theory (DFT)+U calculations of defects in complex transition metal oxides, using Hubbard parameters computed via linear response theory. The formation of a defect locally ...

AMER PHYSICAL SOC2019

Mutations in Bcl9 and Pygo genes cause congenital heart defects by tissue-specific perturbation of Wnt/beta-catenin signaling

Michel Aguet

Bcl9 and Pygopus (Pygo) are obligate Wnt/beta-catenin cofactors in Drosophila, yet their contribution to Wnt signaling during vertebrate development remains unresolved. Combining zebrafish and mouse genetics, we document a conserved, beta-catenin-associate ...

COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT2018

Atomistic Simulations of The Structure of Calcium Silicate Hydrates: Interlayer Positions, Water Content And A General Structural Brick Model

Aslam Kunhi Mohamed

Portland cement has been in use by human civilization for over a century. Yet, we do not fully understand its hydration reaction mechanisms due to the complexity of the system and its continued reaction over time making it hard to study it experimentally. ...

EPFL2018

Glycosphingolipid metabolism in cell fate specification

Giovanni D'Angelo, Laura Capolupo, Jaipreet Singh Loomba

Glycosphingolipids (GSLs) are ubiquitous components of eukaryotic plasma membranes that consist of a ceramide backbone linked to a glycan moiety. Both the ceramide and the glycan parts of GSLs display structural variations that result in a remarkable reper ...

2018

Line Defects and Radiation in N=2 Conformal Theories

Marco Meineri

We study the conformal data of a generic superconformal line defect preserving half of the supercharges in a four-dimensional N = 2 conformal theory. We prove a theory independent relation between the one-point function of the stress tensor in the presence ...

2018

Universality at large transverse spin in defect CFT

Marco Meineri, Sourav Sarkar

We study the spectrum of local operators living on a defect in a generic conformal field theory, and their coupling to the local bulk operators. We establish the existence of universal accumulation points in the spectrum at large s, s being the charge of t ...

Springer Nature2018

Radial coordinates for defect CFTs

Marco Meineri

We study the two-point function of local operators in the presence of a defect in a generic conformal field theory. We define two pairs of cross ratios, which are convenient in the analysis of the OPE in the bulk and defect channel respectively. The new co ...

Springer Nature2018

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