Facetten
Zugriff
Einrichtung
Medientyp
- Text 3
Karte
Erscheinungsjahr
Autor/in
- Johannsen, Jessika
- Santer, René
- Hempel, Maja 2
- Alders, Marielle 1
- Andersen, Peter M 1
- alle zeigen
Sprache
3 Einträge gefunden
-
Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
- Andersen, Peter M
- Nordström, Ulrika
- Tsiakas, Konstantinos
- Johannsen, Jessika
- Volk, Alexander E
- Bierhals, Tatjana
- Zetterström, Per
-
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
-
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
- Oud, Machteld M
- Tuijnenburg, Paul
- Hempel, Maja
- van Vlies, Naomi
- Ren, Zemin
- Ferdinandusse, Sacha
- Jansen, Machiel H