Pace, Nikolai Paul ; Pace Bardon, Michael ; Borg, Isabella
Pace, N. P., Pace Bardon, M., & Borg, I. (2020). A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation. Molecular Genetics & Genomic Medicine, 8(12), e1528..  , 2020