Lisbeth Tranebjærg
Professor emeritus.
1 - 3 out of 3Page size: 10
- 2020
- Published
Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease
Charlton, J. R., Tan, W., Daouk, G., Teot, L., Rosen, S., Bennett, K. M., Cwiek, A., Nam, S., Emma, F., Jouret, F., Oliveira, J. P., Tranebjærg, Lisbeth, Frykholm, C., Mane, S., Hildebrandt, F., Srivastava, T., Storm, T., Christensen, E. I. & Nielsen, R., 2020, In: American journal of physiology. Renal physiology. 319, 6, p. F988-F999Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Lessons learned from 40 novel PIGA patients and a review of the literature
Bayat, A., Knaus, A., Pendziwiat, M., Afenjar, A., Stefan Barakat, T., Bosch, F., Callewaert, B., Calvas, P., Ceulemans, B., Chassaing, N., Depienne, C., Endziniene, M., Ferreira, C. R., Moura de Souza, C. F., Freihuber, C., Ganesan, S., Gataullina, S., Guerrini, R., Guerrot, A. M., Hansen, L. & 34 others, , 2020, In: Epilepsia. 61, 6, p. 1142-1155Research output: Contribution to journal › Journal article › Research › peer-review
- Published
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, Amelie, Birkebæk, N. H., Hartmann-Petersen, Rasmus, Lindorff-Larsen, Kresten, Højland, A. T., Petersen, M. B. & Tranebjærg, Lisbeth, 2020, In: European Journal of Medical Genetics. 63, 3, 6 p., 103733.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 1571395
Most downloads
-
200
downloads
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
179
downloads
Usher syndrome in Denmark: mutation spectrum and some clinical observations
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
154
downloads
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
Research output: Contribution to journal › Journal article › Research › peer-review
Published