Lisbeth Tranebjærg
Professor emeritus.
1 - 1 out of 1Page size: 10
- 2004
- Published
Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family
Henriksen, A. M., Tümer, Asuman Zeynep, Tommerup, Niels, Tranebjærg, Lisbeth & Larsen, Lars Allan, 2004, In: Genetic Testing. 8, 4, p. 404-6 2 p.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 -
156
downloads
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
Research output: Contribution to journal › Journal article › Research › peer-review
Published