2 Einträge gefunden

1. A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay

   1. Johannsen, Jessika
   2. Kortüm, Fanny
   3. Rosenberger, Georg
   4. Bokelmann, Kristin
   5. Schirmer, Markus A
   6. Denecke, Jonas
   7. Santer, René

   2018 - Forschungsinformationssystem des UKE
2. Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

   1. Harms, Frederike L
   2. Kloth, Katja
   3. Bley, Annette
   4. Denecke, Jonas
   5. Santer, René
   6. Lessel, Davor
   7. Hempel, Maja

   2018 - Forschungsinformationssystem des UKE