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Medientyp
- Text 3
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Erscheinungsjahr
Autor/in
- Santer, René
- Denecke, Jonas 2
- Bison, Brigitte 1
- Bley, Annette 1
- Bokelmann, Kristin 1
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Sprache
- Englisch 3
3 Einträge gefunden
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Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
- Harms, Frederike L
- Kloth, Katja
- Bley, Annette
- Denecke, Jonas
- Santer, René
- Lessel, Davor
- Hempel, Maja
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Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a
- Holsten, Till
- Tsiakas, Konstantinos
- Kordes, Uwe
- Bison, Brigitte
- Pietsch, Torsten
- Rutkowski, Stefan
- Santer, René
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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
- Johannsen, Jessika
- Kortüm, Fanny
- Rosenberger, Georg
- Bokelmann, Kristin
- Schirmer, Markus A
- Denecke, Jonas
- Santer, René