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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Genomet og syns- og høresansen

Research output: Contribution to journalJournal articleResearchpeer-review

  1. The effect of antidepressants on brain volume

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Nyt studie viser, at motion beskytter mod depression

    Research output: Contribution to journalContribution to newspaper - Comment/debateCommunication

  3. Forebyggelse og behandling af cytomegalovirusinfektion hos gravide og nyfødte

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Groin hernia in children

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Boganmeldelse: Min mor var besat

    Research output: Contribution to journalContribution to newspaper - ReviewCommunication

  1. Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

    Research output: Contribution to journalLetterResearchpeer-review

  2. The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

    Research output: Contribution to journalJournal articleResearchpeer-review

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The article briefly reviews the impact of genetics and genomics in audiology and ophthalmology, respectively. The discovery of an increasing number of genes associated with hearing and visual impairment creates a foundation for a better understanding of pathophysiology, eventually leading to novel and more individualized treatments. Furthermore, genetic evaluation and counselling can contribute to molecular diagnosis, better prognostication, and mode of inheritance. Next generation sequencing is a technology well suited to dissect the vast genetic heterogeneity in these conditions.

Translated title of the contributionThe genome in terms of audiology and ophthalmology.
Original languageDanish
JournalUgeskrift for læger [online]
Volume176
Issue number46
ISSN1603-6824
Publication statusPublished - 10 Nov 2014

ID: 44692903