Lisbeth Tranebjærg

Lisbeth Tranebjærg

Professor emeritus.

Member of:

  • Clinical Genetics


Publication year:
All
1 - 10 out of 12Page size: 10
  1. 2013
  2. Published

    WFS1-Related Disorders

    Tranebjærg, Lisbeth, Barrett, T. & Rendtorff, N., 19 Dec 2013, In: GeneReviews. p. 1-26 26 p.

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

  3. Published

    SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

    Rendtorff, N. D., Schrijver, I., Lodahl, M., Rodriguez-Paris, J., Johnsen, T., Hansén, E., Nickelsen, L., Tümer, Asuman Zeynep, Fagerheim, T., Wetke, R. & Tranebjærg, Lisbeth, Oct 2013, In: Clinical Genetics. 84, 4, p. 388-391 4 p.

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

  4. Published

    Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics

    van El, C. G., Cornel, M. C., Borry, P., Hastings, R. J., Fellmann, F., Hodgson, S. V., Howard, H. C., Cambon-Thomsen, A., Knoppers, B. M., Meijers-Heijboer, H., Scheffer, H., Tranebjærg, Lisbeth, Dondorp, W., de Wert, G. M. W. R. & ESHG Public and Professional Policy Committee, E. P. A. P. P. C., Jun 2013, In: European Journal of Human Genetics. 21 Suppl 1, p. S1-5

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

  5. Published

    Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration

    Storm, T., Tranebjærg, Lisbeth, Frykholm, C., Birn, H., Verroust, P. J., Nevéus, T., Sundelin, B., Hertz, J. M., Holmström, G., Ericson, K., Christensen, E. I. & Nielsen, R., Mar 2013, In: Nephrology, Dialysis, Transplantation. 28, 3, p. 585-91 7 p.

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

  6. Published

    Developing a policy for paediatric biobanks: principles for good practice

    Hens, K., Van El, C. E., Borry, P., Cambon-Thomsen, A., Cornel, M. C., Forzano, F., Lucassen, A., Patch, C., Tranebjærg, Lisbeth, Vermeulen, E., Salvaterra, E., Tibben, A. & Dierickx, K., Jan 2013, In: European Journal of Human Genetics. 21, 1, p. 2-7 6 p.

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

  7. Published

    3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients

    Wortmann, S. B., Kluijtmans, L. A. J., Rodenburg, R. J., Sass, J. O., Nouws, J., van Kaauwen, E. P., Kleefstra, T., Tranebjærg, Lisbeth, de Vries, M. C., Isohanni, P., Walter, K., Alkuraya, F. S., Smuts, I., Reinecke, C. J., van der Westhuizen, F. H., Thorburn, D., Smeitink, J. A. M., Morava, E. & Wevers, R. A., 2013, In: Journal of Inherited Metabolic Disease. 36, 6, p. 913-921

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

  8. Published

    EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

    Farmer, A., Aymé, S., de Heredia, M. L., Maffei, P., McCafferty, S., M?ynarski, W., Nunes, V., Parkinson, K., Paquis-Flucklinger, V., Rohayem, J., Sinnott, R., Tillmann, V., Tranebjærg, Lisbeth & Barrett, T. G., 2013, In: B M C Pediatrics. 13, 7 p., 130.

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

  9. Published

    Hearing impairment in Estonia: An algorithm to investigate genetic causes in pediatric patients

    Teek, R., Kruustük, K., Zordania, R., Joost, K., Kahre, T., Tõnisson, N., Nelis, M., Zilina, O., Tranebjærg, Lisbeth, Reimand, T. & Ounap, K., 2013, In: Advances in Medical Sciences. 58, 2, p. 419–428 10 p.

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

  10. Published

    Optic nerve histopathology in a case of Wolfram Syndrome: A mitochondrial pattern of axonal loss

    Ross-Cisneros, F. N., Pan, B. X., Silva, R. A., Miller, N. R., Albini, T. A., Tranebjærg, Lisbeth, Rendtorff, N. D., Lodahl, M., Moraes-Filho, M. N., Moraes, M. N., Salomao, S. R., Berezovsky, A., Belfort, R., Carelli, V. & Sadun, A. A., 2013, In: Mitochondrion. 13, 6, p. 841-845 5 p.

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

  11. Published

    Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome

    Husu, E., Hove, H., Farholt, S., Bille, M., Tranebjærg, Lisbeth, Vogel, I. & Kreiborg, Sven, 2013, In: Clinical Genetics. 83, 2, p. 125-134 10 p.

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

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