Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss
Graph Chatbot
Chat with Graph Search
Ask any question about EPFL courses, lectures, exercises, research, news, etc. or try the example questions below.
DISCLAIMER: The Graph Chatbot is not programmed to provide explicit or categorical answers to your questions. Rather, it transforms your questions into API requests that are distributed across the various IT services officially administered by EPFL. Its purpose is solely to collect and recommend relevant references to content that you can explore to help you answer your questions.
This thesis gives an overview of my work over the last four years on the development of analogue electronic building blocks for the auditory pathway, and their application to some models of processing in the auditory brainstem. The anatomy and physiology o ...
Here we describe a patient with epilepsy (secondary to left parieto-temporal brain damage) suffering from the paroxysmal unilateral experience of hearing a person in her near extrapersonal space. The paroxysmal auditory experience was associated with a def ...
Extending previous works done on considerably smaller data sets, the paper studies linear discriminant analysis of about 30 hours of phoneme-labeled speech data in the time-frequency domain. Analysis is carried both independently in time and frequency and ...
Extending previous works done on considerably smaller data sets, the paper studies linear discriminant analysis of about 30 hours of phoneme-labeled speech data in the time-frequency domain. Analysis is carried both independently in time and frequency and ...
Background: Zinc Finger Nucleases (ZFNs) are man-made restriction enzymes useful for manipulating genomes by cleaving target DNA sequences. ZFNs allow therapeutic gene correction or creation of genetically modified model organisms. ZFN specificity is not a ...
Mycobacterium tuberculosis, the scourge of humanity, is one of the most successful and scientifically challenging pathogens of all time. To catalyze the conception of new prophylactic and therapeutic interventions against tuberculosis, and to enhance our u ...
Nowadays, hearing impaired people can be treated with a multitude of different devices and surgical interventions that are selected in function of the type and degree of hearing loss of the patient. These known therapies cover the major part of possible he ...
Aim: Treatment of sensorineural hearing loss could be advanced using novel drug carriers such as hyperbranched polylysine (HBPL) or lipid nanocapsules (LNCs). This study examined HBPL and LNCs for their cellular uptake and possible toxicity in vitro and in ...
Theoretical considerations predict that amplification of expressed gene transcripts by reverse transcription-PCR using arbitrarily chosen primers will result in the preferential amplification of the central portion of the transcript. Systematic, high-throu ...
