Items where authors include "Doody, G."

Proceedings Paper

Poulter, J., Nadat, F., O'Callaghan, E. et al. (13 more authors) (2024) P13.018.D Biallelic mutation of CWF19L2, encoding a core spliceosome subunit, causes a combined neurodevelopmental and immunodeficiency disorder. In: European Journal of Human Genetics. 57th European Society of Human Genetics (ESHG) Conference, 01-04 Jun 2024, Berlin, Germany. .