Items where authors include "Matsumoto, N."

Article

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

Hempel, A., Pagnamenta, A. T., Blyth, M. et al. (18 more authors) (2016) Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. Journal of Medical Genetics, 53 (3). pp. 152-162. ISSN 0022-2593