Lisbeth Tranebjærg

Lisbeth Tranebjærg

Professor emeritus.

Member of:

  • Clinical Genetics


Publication year:
All
1 - 6 out of 6Page size: 10
  1. 2019
  2. Published

    Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA

    Mey, K., Muhamad, A. A., Tranebjærg, Lisbeth, Rendtorff, N. D., Rasmussen, S. H., Bille, M. & Cayé-Thomasen, Per, Nov 2019, In: The Laryngoscope. 129, 11, p. 2574-2579 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. Published

    Oral therapy for riboflavin transporter deficiency: What is the regimen of choice?

    Gorcenco, S., Vaz, F. M., Tracewska-Siemiatkowska, A., Tranebjærg, Lisbeth, Cremers, F. P. M., Ygland, E., Kicsi, J., Rendtorff, N. D., Möller, C., Kjellström, U., Andréasson, S. & Puschmann, A., Apr 2019, In: Parkinsonism and Related Disorders. 61, p. 245-247

    Research output: Contribution to journal › Letter › Research › peer-review

  4. Published

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

    Mikkelsen, K. S., Tranebjærg, Lisbeth & Mey, K., Mar 2019, In: Cochlear Implants International. 20, 2, p. 100-103 4 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  5. Published

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

    Mey, K., Bille, M., Rye Rasmussen, S. H., Tranebjærg, Lisbeth & Cayé-Thomasen, Per, Mar 2019, In: Otology & Neurotology. 40, 3, p. e178-e185 8 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  6. Published

    Functional assessment of variants associated with Wolfram syndrome

    Riachi, M., Yilmaz, S., Kurnaz, E., Aycan, Z., Çetinkaya, S., Tranebjærg, Lisbeth, Rendtorff, N. D., Bitner-Glindzicz, M., Bockenhauer, D. & Hussain, K., 2019, In: Human Molecular Genetics. 28, 22, p. 3815-3824 10 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  7. Published

    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., Tranebjærg, Lisbeth, Mattina, T., Magini, P., Antonaros, F., Caracausi, M., Vitale, L., Locatelli, C., Seri, M., Strippoli, P., Piovesan, A. & Cocchi, G., 2019, In: Molecular Genetics & Genomic Medicine. 7, 14 p., e797.

    Research output: Contribution to journal › Journal article › Research › peer-review

ID: 1571395