Items where authors include "Low, 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

Lord, J. orcid.org/0000-0002-0539-9343, Oquendo, C.J., Wai, H.A. et al. (11 more authors) (2024) Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants. Genetics in Medicine, 26 (12). 101249. ISSN 1098-3600

Oates, S., Absoud, M., Goyal, S. et al. (32 more authors) (2021) ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder. Clinical Genetics, 100 (4). pp. 412-429. ISSN 0009-9163

Yates, T.M., Drucker, M., Barnicoat, A. et al. (19 more authors) (2020) ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum. Human Mutation, 41 (5). pp. 1042-1050. ISSN 1059-7794