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Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss

Publications associées (49)

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Design Methodology and Innovative Device Concept for Acoustic Hearing Implants

Hans Bernhard

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 ...

EPFL2011

ZFN-Site searches genomes for zinc finger nuclease target sites and off-target sites

Giovanna Ambrosini, Christian Iseli, Philipp Bucher

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 ...

BioMed Central2011

Potential novel drug carriers for inner ear treatment: hyperbranched polylysine and lipid nanocapsules

Harm-Anton Klok, Zuzana Kadlecova, Markus Scholl

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 ...

Future Medicine2009

Discriminant linear processing of time-frequency plane

Hynek Hermansky, Fabio Valente

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 ...

2006

Discriminant linear processing of time-frequency plane

Hynek Hermansky, Fabio Valente

IDIAP2006

Hearing of a presence

Olaf Blanke

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 ...

Taylor & Francis2003

Shotgun sequencing of the human transcriptome with ORF expressed sequence tags

Philipp Bucher

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 ...

2000

[What can be expected from sequencing of the Mycobacterium tuberculosis genome?]

Stewart Cole

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 ...

2000

Analogue VLSI building blocks for an electronic auditory pathway

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 ...

EPFL1998