• Reberbansgade, Aalborg Universitetshospital, Nord, E-05-010

    9000 Aalborg

    Denmark

20132020

Research output per year

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Research Output

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update

Herlin, M. K., Petersen, M. B. & Brännström, M., 20 Aug 2020, In : Orphanet Journal of Rare Diseases. 15, 1, 16 p., 214.

Research output: Contribution to journalReview articleResearchpeer-review

Open Access
File
  • 5 Downloads (Pure)

    No effect of oral sucrose or IV glucose during exercise in phosphorylase b kinase deficiency

    Andersen, A. G., Ørngreen, M. C., Raaschou-Pedersen, D. E. T., Borch, J. D. S., Løkken, N., Krag, T. O., Petersen, M. B. & Vissing, J., Apr 2020, In : Neuromuscular Disorders. 30, 4, p. 340-345 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  • 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

  • 1 Citation (Scopus)

    Recurrent Arginine Substitutions in the ACTG2 Gene are the Primary Driver of Disease Burden and Severity in Visceral Myopathy

    Assia Batzir, N., Kishor Bhagwat, P., Larson, A., Coban Akdemir, Z., Bagłaj, M., Bofferding, L., Bosanko, K. B., Bouassida, S., Callewaert, B., Cannon, A., Enchautegui Colon, Y., Garnica, A. D., Harr, M. H., Heck, S., Hurst, A. C., Jhangiani, S. N., Isidor, B., Littlejohn, R. O., Liu, P., Magoulas, P. & 17 others, Mar Fan, H., Marom, R., McLean, S., Nezarati, M. M., Nugent, K. M., Petersen, M. B., Linda Rocha, M., Roeder, E., Smigiel, R., Tully, I., Weisfeld-Adams, J., Wells, K. O., Genomics, B-H. C. F. M., Posey, J. E., Lupski, J. R., Beaudet, A. L. & Wangler, M. F., Mar 2020, In : Human Mutation. 41, 3, p. 641-654 14 p.

    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
    File
  • 1 Citation (Scopus)
    28 Downloads (Pure)

    Press / Media

    I forskningens tjeneste

    Michael Bjørn Petersen

    28/12/2016

    7 items of Media coverage

    Press/Media: Press / Media

    Private gentests er som krystalkugler og horoskoper

    Michael Bjørn Petersen

    19/12/2015

    5 items of Media coverage

    Press/Media: Press / Media

    Detektivarbejde med avanceret mekanik

    Michael Bjørn Petersen

    24/05/2015

    3 items of Media coverage

    Press/Media: Press / Media

    Flere lader sig genteste for arvelige sygdomme

    Michael Bjørn Petersen

    26/03/2015

    1 item of Media coverage

    Press/Media: Press / Media