3 Einträge gefunden

1. CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients

   1. Ammer, Luise Sophie
   2. Täuber, Karolin
   3. Perez, Anna
   4. Dohrmann, Thorsten
   5. Denecke, Jonas
   6. Santer, René
   7. Blümlein, Ulrike

   2023 - Forschungsinformationssystem des UKE - frei zugänglich
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
3. 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