Items where authors include "Yates, T.M."

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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

Balasubramanian, M., Dingemans, A.J.M., Albaba, S. et al. (36 more authors) (2021) Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. European Journal of Human Genetics, 29 (4). pp. 625-636. ISSN 1018-4813

Yates, T.M., Campeau, P.M., Ghoumid, J. et al. (6 more authors) (2020) Biallelic variants in GLE1 with survival beyond neonatal period. Clinical Genetics, 98 (6). pp. 622-625. ISSN 0009-9163

Yates, T.M., Drucker, M., Barnicoat, A. et al. (19 more authors) (2020) ZMYND11ÔÇÉrelated syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum. Human Mutation, 41 (5). pp. 1042-1050. ISSN 1059-7794

Yates, T.M., Ng, O.-H., Offiah, A.C. et al. (4 more authors) (2019) Cerebrofaciothoracic dysplasia: four new patients with a recurrent TMCO1 pathogenic variant. American Journal of Medical Genetics Part A, 179 (1). pp. 43-49. ISSN 1552-4825

Yates, T.M., Suri, M., Desurkar, A. et al. (8 more authors) (2018) SLC35A2-related congenital disorder of glycosylation: Defining the phenotype. European Journal of Paediatric Neurology. ISSN 1090-3798

Yates, T.M., Vasudevan, P.C., Chandler, K.E. et al. (5 more authors) (2017) De novo mutations in HNRNPU result in a neurodevelopmental syndrome. American Journal of Medical Genetics Part A, 173 (11). pp. 3003-3012. ISSN 1552-4825

This list was generated on Mon Apr 15 02:15:25 2024 BST.