Publication

A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy

Publications associées (34)

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Next generation workloads, such as genome sequencing, have an astounding impact in the healthcare sector. Sequence alignment, the first step in genome sequencing, has experienced recent breakthroughs, which resulted in next generation sequencing (NGS). As ...

2020

Anophthalmia and microphthalmia (A/M) are rare distinct phenotypes that represent a continuum of structural developmental eye defects. Here, we describe three probands from an Egyptian population with various forms of A/M: two patients with bilateral anoph ...

2019

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Nanopore sensing is a powerful single-molecule approach for the detection of biomolecules. Recent studies have demonstrated that aerolysin is a promising candidate to improve the accuracy of DNA sequencing and to develop novel single-molecule proteomic str ...

2019

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

To detect functional somatic mutations in tumor samples, whole-exome sequencing (WES) is often used for its reliability and relative low cost. RNA-seq, while generally used to measure gene expression, can potentially also be used for identification of soma ...

2018

Changes in Heart Rate Variability Recorded in Natural Situation with T-Shirt Integrated Sensors and Level of Observed Behavioral Excitation: A Pilot Study of Patients with Intellectual Disabilities and Psychiatric Disorders

Michel Akselrod

Background: The present study investigates the possibilities of using heart rate variability (HRV) parameters as physiological markers that precede increase in observed behavioral excitation of intellectually disabled individuals. The ability to recognize ...

Frontiers Media Sa2017

Whole genome sequencing distinguishes between relapse and reinfection in recurrent leprosy cases

Stewart Cole, Andrej Benjak, Charlotte Avanzi, Philippe Busso, Pushpendra Singh, Jérémie Piton, Chloé Marie Loiseau

Background Since leprosy is both treated and controlled by multidrug therapy (MDT) it is important to monitor recurrent cases for drug resistance and to distinguish between relapse and reinfection as a means of assessing therapeutic efficacy. All three obj ...

Public Library Science2017

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We present an update of the Eukaryotic Promoter Database EPD (http://epd.vital-it.ch), more specifically on the EPDnew division, which contains comprehensive organisms-specific transcription start site (TSS) collections automatically derived from next gene ...

2017

Scanning tunneling microscopy on large bio-molecular systems on surfaces

Sebastian Koslowski

The ever growing demand for the development of new technologies and materials has led to extensive studies inspired by biological functional complexes. Peptides with their outstanding ability to efficiently self-assemble can express a broad spectrum of int ...

EPFL2017

EMG-Based Detection of User's Intentions for Human-Machine Shared Control of an Assistive Upper-Limb Exoskeleton

Silvestro Micera

To assist people with disabilities, exoskeletons must be provided with human-machine interfaces (HMI) capable to identify the user's intentions and enable cooperative interaction. Electromyographic (EMG) signals could be suitable for this purpose, but thei ...

Springer Int Publishing Ag2017

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