6 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. αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor

   1. Kortüm, Fanny
   2. Harms, Frederike Leonie
   3. Hennighausen, Natascha
   4. Rosenberger, Georg

   2015 - Forschungsinformationssystem des UKE - frei zugänglich
3. An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

   1. Abdollahpour, Hengameh
   2. Alawi, Malik
   3. Kortüm, Fanny
   4. Beckstette, Michael
   5. Seemanova, Eva
   6. Komárek, Vladimír
   7. Rosenberger, Georg

   2015 - Forschungsinformationssystem des UKE
4. Exom-Sequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome: Erfahrungen aus Hamburg

   1. Kortüm, Fanny
   2. Abdollahpour, Hengameh
   3. Alawi, Malik
   4. Korenke, Georg Christoph
   5. Seemanova, Eva
   6. Tinschert, Sigrid
   7. Zenker, Martin

   2014 - Forschungsinformationssystem des UKE
5. Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.

   1. Kortüm, Fanny
   2. Chyrek, Magdalena
   3. Fuchs, Sigrid
   4. Albrecht, B
   5. Gillessen-Kaesbach, G
   6. Mütze, U
   7. Seemanova, E

   2011 - Forschungsinformationssystem des UKE
6. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

   1. Endele, Sabine
   2. Rosenberger, Georg
   3. Geider, Kirsten
   4. Popp, Bernt
   5. Tamer, Ceyhun
   6. Stefanova, Irina
   7. Milh, Mathieu

   2010 - Forschungsinformationssystem des UKE