Publication 5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases.
Publication A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside.
Publication A retrospective audit of anesthetic techniques and complications in children with mucopolysaccharidoses.
Publication Added value of the emm-cluster typing system to analyze the group A Streptococcus epidemiology in high-income settings.