Andrea Superti-Furga
Arzt
Geboren:
1959
Creative Commons Attribution-Share Alike 4.0
Werke:
- Elevated lactate in Mauriac syndrome: still a mystery
- The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
- Correction to: Elevated lactate in Mauriac syndrome: still a mystery
- De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures