3 Einträge gefunden

1. Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

   1. Kloth, Katja
   2. Synofzik, Matthis
   3. Kernstock, Christoph
   4. Schimpf-Linzenbold, Simone
   5. Schuettauf, Frank
   6. Neu, Axel
   7. Wissinger, Bernd

   2019 - Forschungsinformationssystem des UKE - frei zugänglich
2. Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

   1. Renner, Agnes B
   2. Fiebig, Britta S
   3. Weber, Bernhard H F
   4. Wissinger, Bernd
   5. Andreasson, Sten
   6. Gal, Andreas
   7. Cropp, Elke

   2009 - Forschungsinformationssystem des UKE
3. The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.

   1. Schuster, Andreas
   2. Janecke, Andreas R
   3. Wilke, Robert
   4. Schmid, Eduard
   5. Thompson, Debra A
   6. Utermann, Gerd
   7. Wissinger, Bernd

   2007 - Forschungsinformationssystem des UKE - frei zugänglich