Lisbeth Tranebjærg

Lisbeth Tranebjærg

Professor emeritus.

Member of:

  • Clinical Genetics


Publication year:
All
1 - 4 out of 4Page size: 10
  1. 2021
  2. Published

    Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome

    Moldenæs, M. F., Rendtorff, N. D., Hindbæk, L. S., Tørring, P. M., Nilssen, Ø. & Tranebjærg, Lisbeth, 2021, In: European Journal of Medical Genetics. 64, 9, 104265.

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

  3. Published

    DOORS syndrome and a recurrent truncating ATP6V1B2 variant

    Beauregard-Lacroix, E., Pacheco-Cuellar, G., Ajeawung, N. F., Tardif, J., Dieterich, K., Dabir, T., Vind-Kezunovic, D., White, S. M., Zadori, D., Castiglioni, C., Tranebjærg, L., Tørring, P. M., Blair, E., Wisniewska, M., Camurri, M. V., van Bever, Y., Molidperee, S., Taylor, J., Dionne-Laporte, A., Sisodiya, S. M. & 2 others, Hennekam, R. C. M. & Campeau, P. M., 2021, In: Genetics in Medicine. 23, p. 149–154

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

  4. Published

    Deciphering the premature mortality in PIGA-CDG – An untold story

    Bayat, A., Kløvgaard, M., Johannesen, K. M., Stefan Barakat, T., Kievit, A., Montomoli, M., Parrini, E., Pietrafusa, N., Schelhaas, J., van Slegtenhorst, M., Miya, K., Guerrini, R., Tranebjærg, Lisbeth, Tümer, Asuman Zeynep, Rubboli, Guido & Møller, R. S., 2021, In: Epilepsy Research. 170, 106530.

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

  5. Published

    Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

    Ascari, G., Rendtorff, N. D., De Bruyne, M., De Zaeytijd, J., Van Lint, M., Bauwens, M., Van Heetvelde, M., Arno, G., Jacob, J., Creytens, D., Van Dorpe, J., Van Laethem, T., Rosseel, T., De Pooter, T., De Rijk, P., De Coster, W., Menten, B., Rey, A. D., Strazisar, M., Bertelsen, M. & 2 others, Tranebjærg, Lisbeth & De Baere, E., 2021, In: Frontiers in Cell and Developmental Biology. 9, 664317.

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

ID: 1571395