Items where authors include "Mullegama, S.V."

Article

Elkhateeb, N. orcid.org/0000-0002-3076-3178, Crookes, R., Spiller, M. et al. (68 more authors) (2025) Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder. Genetics in Medicine, 27 (3). 101348. ISSN 1098-3600

Larsen, I.S.B., Povolo, L. orcid.org/0000-0001-7927-823X, Zhou, L. et al. (17 more authors) (2023) The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase. Proceedings of the National Academy of Sciences, 120 (21). e2302584120. ISSN 0027-8424