V. Buzzi Children's Hospital
Hospital
Location:
Milano,
Italy (IT)
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function (2020)
Rice G, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, et al.
Journal article
N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics (2016)
Abela L, Simmons L, Steindl K, Schmitt B, Mastrangelo M, Joset P, Papuc M, et al.
Journal article