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Research Output

Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome

Karstensen, H. G., Rendtorff, N. D., Hindbæk, L. S., Colombo, R., Stein, A., Birkebæk, N. H., Hartmann-Petersen, R., Lindorff-Larsen, K., Højland, A. T., Petersen, M. B. & Tranebjærg, L., Mar 2020, In : European Journal of Medical Genetics. 63, 3, 103733.

Research output: Contribution to journalJournal articleResearchpeer-review

  • 2 Citations (Scopus)

    Audiological and Vestibular Findings in Subjects with MELAS Syndrome

    Hougaard, D. D., Hestoy, D. H., Højland, A. T., Gaihede, M. & Petersen, M. B., Aug 2019, In : The Journal of International Advanced Otology. 15, 2, p. 296-303 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
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  • 1 Citation (Scopus)
    28 Downloads (Pure)

    First reported Northern European with CABP2-related non-syndromic hearing loss

    Hojland, A. T., Okkels, H. & Petersen, M. B., 2019, In : European Journal of Human Genetics. 27, Suppl. 2, p. 1225 1 p., P02.22D.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

    Open Access

    HARS2 sequence variants identified in young individuals with severe sensorineural hearing impairment

    Karstensen, H., Rendtorff, N., Hindhede, L., Stein, A., Hartmann-Petersen, R., Lindorff-Larsen, K., Hojland, A., Petersen, M. & Tranebjaerg, L., Jul 2019, In : European Journal of Human Genetics. 27, Suppl. 1, p. 50-51 2 p., P02.18A.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

    Identification of a Novel Silent Exonic Point Mutation in the NF1 Gene Causing Partial Exon 9 Skipping

    Hoejland, A. T., Lolas, I., Diemer, T., Okkels, H. & Petersen, M. B., 1 Jul 2019, In : European Journal of Human Genetics. 27, Suppl. 1, p. 291-292 2 p.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

    3 Citations (Scopus)