3 Einträge gefunden

1. Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism

   1. Volk, Alexander E
   2. Hedergott, Andrea
   3. Preising, Markus
   4. Rading, Sebastian
   5. Fricke, Julia
   6. Herkenrath, Peter
   7. Nürnberg, Peter

   2021 - Forschungsinformationssystem des UKE
2. A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction

   1. Fazeli, Walid
   2. Herkenrath, Peter
   3. Stiller, Barbara
   4. Neugebauer, Antje
   5. Fricke, Julia
   6. Lang-Roth, Ruth
   7. Nürnberg, Gudrun

   2017 - Forschungsinformationssystem des UKE
3. Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.

   1. Volk, Alexander E
   2. Carter, Oliver
   3. Fricke, Julia
   4. Herkenrath, Peter
   5. Poggenborg, Jörg
   6. Borck, Guntram
   7. Demant, Andre W

   2011 - Forschungsinformationssystem des UKE - frei zugänglich