Svenja Alter
Genetikerin
Werke:
- Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families
- Neonatal presentation of COG6‐CDG with prominent skin phenotype
- Molekulargenetische Diagnostik bei erblichem Brust- und Eierstockkrebs
- First description of inheritance of a postzygotic OPA1 mosaic variant