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| The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita T Vulliamy, A Marrone, F Goldman, A Dearlove, M Bessler, PJ Mason, ... Nature 413 (6854), 432-435, 2001 | 1175 | 2001 |
| The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017 | 646 | 2017 |
| Glucose-6-phosphate dehydrogenase deficiency L Luzzatto, A Mehta, T Vulliamy | 581 | 2001 |
| Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC T Vulliamy, A Marrone, R Szydlo, A Walne, PJ Mason, I Dokal Nature genetics 36 (5), 447-449, 2004 | 566 | 2004 |
| Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation TJ Vulliamy, A Marrone, SW Knight, A Walne, PJ Mason, I Dokal Blood 107 (7), 2680-2685, 2006 | 404 | 2006 |
| Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita T Vulliamy, R Beswick, M Kirwan, A Marrone, M Digweed, A Walne, ... Proceedings of the National Academy of Sciences 105 (23), 8073-8078, 2008 | 397 | 2008 |
| TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes AJ Walne, T Vulliamy, R Beswick, M Kirwan, I Dokal Blood, The Journal of the American Society of Hematology 112 (9), 3594-3600, 2008 | 396 | 2008 |
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| Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita TJ Vulliamy, SW Knight, PJ Mason, I Dokal Blood Cells, Molecules, and Diseases 27 (2), 353-357, 2001 | 276 | 2001 |
| Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal‐Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1 SW Knight, NS Heiss, TJ Vulliamy, CM Aalfs, C McMahon, P Richmond, ... British journal of haematology 107 (2), 335-339, 1999 | 261 | 1999 |
| Constitutional mutations in RTEL1 cause severe dyskeratosis congenita AJ Walne, T Vulliamy, M Kirwan, V Plagnol, I Dokal The American Journal of Human Genetics 92 (3), 448-453, 2013 | 253 | 2013 |
Inderjeet DokalChair of Child Health and Honorary Consultant in Haematology在 qmul.ac.uk 的電子郵件地址已通過驗證