Lisbeth Tranebjærg

• Presentation
• Research outputs
• Most downloaded

Most downloads

1. 198 downloads

   Published

   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

2. 179 downloads

   Published

   Usher syndrome in Denmark: mutation spectrum and some clinical observations

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

3. 153 downloads

   Published

   An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

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

4. 142 downloads

   Published

   Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia

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

5. 127 downloads

   Published

   Individual Hearing Loss: Characterization, Modelling, Compensation Strategies

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