Items where authors include "McConkie-Rosell, A."

Article

Niggl, E. orcid.org/0000-0002-5654-8425, Bouman, A., Briere, L.C. et al. (345 more authors) (2023) HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. The American Journal of Human Genetics, 110 (8). pp. 1414-1435. ISSN 0002-9297

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