Items where authors include "Posey, J.E."

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

Saida, K., Maroofian, R., Sengoku, T. et al. (84 more authors) (2023) Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. Genetics in Medicine, 25 (1). pp. 90-102. ISSN 1098-3600