Search for dissertations about: "Carina Frykholm"

Found 1 swedish dissertation containing the words Carina Frykholm.

2. 1. Clinical and Genetic Studies of Hearing Impairment

   Author : Carina Frykholm; Ulla Friberg; Hans-Christian Larsen; Niklas Dahl; Marie-Louise Bondeson; Lisbeth Tranebjaerg; Uppsala universitet; []
   Keywords : Otorhinolaryngology; NF2; array-CGH; Meniere’s disease; PIK3C2G; X-linked; progressive; hearing impairment; Otorhinolaryngologi;

   Abstract : Monogenic disorders offer a possibility for studies of genetic disturbances in hearing impairment—a knowledge which could be essential for development of future treatment options. In this thesis, the underlying genetic disturbances in neurofibromatosis 2 (NF2) and familial Meniere’s disease (FMD) were evaluated, and familial X-linked hearing impairment was described from a clinical point of view. READ MORE