Michael Bjørn Petersen

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

    9000 Aalborg

    Denmark

20132019
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Research Output 2013 2019

9 Downloads (Pure)

Audiological and Vestibular Findings in Subjects with MELAS Syndrome

Hougaard, D. D., Hestoy, D. H., Højland, A. T., Gaihede, M. & Petersen, M. B., 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
Lactic Acidosis
Dizziness
Semicircular Canals
Head Impulse Test
Stroke

Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene

Brix, N., Jensen, J. M., Pedersen, I. S., Ernst, A., Frost, S., Bogaard, P., Petersen, M. B. & Bender, L., 26 Jul 2019, In : Neonatology. 5 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Mitochondrial Diseases
Muscle Hypotonia
Brain Diseases
Acidosis
Early Diagnosis

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., 23 Aug 2019, In : European Journal of Medical Genetics. 103733.

Research output: Contribution to journalJournal articleResearchpeer-review

Hearing Loss
Siblings
Phenotype
Gonadal dysgenesis XX type deafness
2 Downloads (Pure)

Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21

Pelleri, M. C., Cicchini, E., Petersen, M. B., Tranebjaerg, L., Mattina, T., Magini, P., Antonaros, F., Caracausi, M., Vitale, L., Locatelli, C., Seri, M., Strippoli, P., Piovesan, A. & Cocchi, G., Aug 2019, In : Molecular Genetics & Genomic Medicine. 7, 8, e797.

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Chromosomes, Human, Pair 21
Trisomy
Human Chromosomes
Down Syndrome
Comparative Genomic Hybridization
6 Citations (Scopus)

The spectrum of intermediate SCN8A-related epilepsy

Johannesen, K. M., Gardella, E., Encinas, A. C., Lehesjoki, A-E., Linnankivi, T., Petersen, M. B., Lund, I. C. B., Blichfeldt, S., Miranda, M. J., Pal, D. K., Lascelles, K., Procopis, P., Orsini, A., Bonuccelli, A., Giacomini, T., Helbig, I., Fenger, C. D., Sisodiya, S. M., Hernandez-Hernandez, L., Krithika, S. & 25 others, Rumple, M., Masnada, S., Valente, M., Cereda, C., Giordano, L., Accorsi, P., Bürki, S. E., Mancardi, M., Korff, C., Guerrini, R., von Spiczak, S., Hoffman-Zacharska, D., Mazurczak, T., Coppola, A., Buono, S., Vecchi, M., Hammer, M. F., Varesio, C., Veggiotti, P., Lal, D., Brünger, T., Zara, F., Striano, P., Rubboli, G. & Møller, R. S., May 2019, In : Epilepsia. 60, 5, p. 830-844 15 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Epilepsy
Brain Diseases
Intellectual Disability
Seizures
Muscle Hypotonia

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