27 results on '"Vulliamy, Tom"'
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2. Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
3. Air pollution, ethnicity and telomere length in east London schoolchildren: An observational study
4. DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation
5. In-vitro analysis of the effects of TA65 and danazol on the proliferation and telomerase activity of T lymphocytes in bone marrow failure syndromes
6. DKC1 mutation causing different phenotypes in a family with X-linked Hoyeraal-Hreidarsson syndrome
7. Intermittent montelukast in children aged 10 months to 5 years with wheeze (WAIT trial): a multicentre, randomised, placebo-controlled trial
8. ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function
9. Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita
10. Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and Myelodysplasia
11. Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita
12. Inherited aplastic anaemias/bone marrow failure syndromes
13. Dyskeratosis Congenita
14. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure
15. Dyskeratosis congenita: its link to telomerase and aplastic anaemia
16. Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome
17. Association between aplastic anaemia and mutations in telomerase RNA
18. Hematologically Important Mutations: Glucose-6-phosphate Dehydrogenase
19. Very Short Telomeres in the Peripheral Blood of Patients with X-Linked and Autosomal Dyskeratosis Congenita
20. Glucose-6-phosphate dehydrogenase deficiency
21. Human Hexose-6-phosphate Dehydrogenase (Glucose 1-Dehydrogenase) Encoded at 1p36: Coding Sequence and Expression
22. Hematologically Important Mutations: Glucose-6-Phosphate Dehydrogenase
23. Organization of the Human Protein 4.1 Genomic Locus: New Insights into the Tissue-Specific Alternative Splicing of the Pre-mRNA
24. Hematologically Important Mutations: Glucose-6-phosphate Dehydrogenase
25. Cloning of the glucose 6-phosphate dehydrogenase gene from Plasmodium f alciparum
26. Human red cell glucose-6-phosphate dehydrogenase is encoded only on the X chromosome
27. Tetanus toxin: A marker of amphibian neuronal differentiation in vitro
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