Lisbeth Tranebjærg

Most downloads

1. 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
2. 179 downloads

   Usher syndrome in Denmark: mutation spectrum and some clinical observations

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

   Published
3. 156 downloads

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

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

   Published

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