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Number of items: 6.

Article

Rautengarten, C., Quarrell, O.W., Stals, K. et al. (9 more authors) (2019) A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia. Human Molecular Genetics. ISSN 0964-6906

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

Shields, B.M., McDonald, T.J., Ellard, S. et al. (3 more authors) (2012) The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes. Diabetologia, 55 (5). pp. 1265-1272. ISSN 0012-186X

Gloyn, A.L., Pearson, E.R., Antcliff, J.F. et al. (22 more authors) (2004) Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes. New England Journal of Medicine, 350 (18). pp. 1838-1849. ISSN 1533-4406

Proceedings Paper

Quarrell, O.W., Rautengarten, C., Stals, K. et al. (9 more authors) (2019) Report of a novel variant causing a schneckenbecken-like dysplasia. In: European Journal of Human Genetics. 52nd European Society of Human Genetics (ESHG) Conference, 15-18 Jun 2019, Gothenburg, Sweden. Springer Nature , pp. 1298-1299.

This list was generated on Sat May 23 21:25:18 2020 BST.