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Number of items: 6.

Article

Kanani, F., Titheradge, H., Cooper, N. et al. (10 more authors) (2020) Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy. American Journal of Medical Genetics Part A. ISSN 1552-4825

Annear, N.M.P., Appleton, R.E., Bassi, Z. et al. (21 more authors) (2019) Tuberous sclerosis complex (TSC) : expert recommendations for provision of coordinated care. Frontiers in Neurology, 10. 1116.

Salway, S. orcid.org/0000-0002-7688-5496, Yazici, E., Khan, N. et al. (4 more authors) (2019) How should health policy and practice respond to the increased genetic risk associated with close relative marriage? results of a UK Delphi consensus building exercise. BMJ Open, 9 (7). e028928. ISSN 2044-6055

McRae, J.F., Clayton, S., Fitzgerald, T.W. et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542 (7642). pp. 433-438. ISSN 0028-0836

Fitzgerald, T.W., Gerety, S.S., Jones, W.D. et al. (263 more authors) (2015) Large-scale discovery of novel genetic causes of developmental disorders. Nature, 519. pp. 223-228. ISSN 0028-0836

Proceedings Paper

Kanani, F., Titheradge, H., Cooper, N. et al. (10 more authors) (2019) De novo, heterozygous missense variants in YWHAG as a novel cause of developmental and epileptic encephalopathy. In: European Journal of Human Genetics. 52nd European Society of Human Genetics (ESHG) Conference, 15-18 Jun 2019, Gothenburg, Sweden. Springer Nature , pp. 1471-1472.

This list was generated on Sat May 30 23:34:11 2020 BST.