Items where authors include "Bijlsma, E.K."

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

Richardson, R., Baralle, D., Bennett, C. et al. (19 more authors) (2022) Further delineation of phenotypic spectrum of SCN2A-related disorder. American Journal of Medical Genetics Part A, 188 (3). pp. 867-877. ISSN 1552-4825

Quarrell, O.W., Clarke, A.J., Compton, C. et al. (14 more authors) (2018) Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 177 (1). pp. 35-39. ISSN 1552-4841