Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract

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Publications associées (28)

Technological and computational advances driving high-throughput oncology

Christoph Merten, Leonie Kolmar, Alexis Louis Autour, Blandine Anne Catherine Vergier, Xiaoli Ma

Engineering and computational advances have opened many new avenues in cancer research, particularly when being exploited in interdisciplinary approaches. For example, the combination of microfluidics, novel sequencing technologies, and computational analy ...

ELSEVIER SCIENCE LONDON2022

Photovoltaic stimulation of retinal microcircuit for vision restoration

Naïg Aurelia Ludmilla Chenais

Sight restoration through retinal prostheses was still a mere dream a century ago. Current challenges are even greater: providing a quantitatively and qualitatively useful artificial vision to late blind patients. Existing approaches all face engineering a ...

EPFL2021

OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with PRPH2 pathogenic variant

Imen Habibi

Purpose: To report multimodal imaging findings including optical coherence tomography angiography (OCT-A) of a patient presenting with a quiescent choroidal neovascularization (CNV) in one eye and an active CNV in the fellow eye, complicating retinitis pig ...

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Photovoltaic retinal prosthesis restores high-resolution responses to single-pixel stimulation in blind retinas

Naïg Aurelia Ludmilla Chenais, Marta Jole Ildelfonsa Airaghi Leccardi, Diego Ghezzi

Retinal prostheses hold the promise of restoring vision in totally blind people. However, a decade of clinical trials highlighted quantitative limitations hampering the possibility of reaching this goal. A key challenge in retinal stimulation is to indepen ...

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Investigation of electrical stimulation of the optic nerve for artificial vision

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Thanks to recent technological advances in microelectronics and bioengineering, it is now possible to restore lost or impaired sensory modalities by interfering the nervous system with elec-tronic devices and artificially reproducing the electrical encodin ...

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Thalamic microcircuitry: neurons, synapses, and circuit motifs in receptive field structure and sensory processing

Jane Yi

Our perception of the world is first shaped by the thalamus, a structure composed of many nuclei in the center of our brains. Different nuclei hold different responsibilities - vision (dorsal lateral genicular nucleus; dLGN), audition (medial geniculate nu ...

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An Introduction to MPEG-G: The First Open ISO/IEC Standard for the Compression and Exchange of Genomic Sequencing Data

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The development and progress of high-throughput sequencing technologies have transformed the sequencing of DNA from a scientific research challenge to practice. With the release of the latest generation of sequencing machines, the cost of sequencing a whol ...

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Fast and pervasive transcriptomic resilience and acclimation of extremely heat-tolerant coral holobionts from the northern Red Sea

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Corals from the northern Red Sea and Gulf of Aqaba exhibit extreme thermal tolerance. To examine the underlying gene expression dynamics, we exposed Stylophora pistillata from the Gulf of Aqaba to short-term (hours) and long-term (weeks) heat stress with p ...

National Academy of Sciences2021

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