470 results on '"Vulliamy, Tom"'
Search Results
2. New WHO classification of genetic variants causing G6PD deficiency
3. The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia
4. Inherited bone marrow failure in the pediatric patient
5. Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
6. Acquired somatic variants in inherited myeloid malignancies
7. Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
8. Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes
9. A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure
10. High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders
11. The Human Phenotype Ontology in 2017
12. ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants
13. Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants
14. Germline NPM1 mutations lead to altered rRNA 2′-O-methylation and cause dyskeratosis congenita
15. The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
16. GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML
17. P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*
18. Air pollution, ethnicity and telomere length in east London schoolchildren: An observational study
19. DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation
20. Intermittent montelukast in children aged 10 months to 5 years with wheeze (WAIT trial): a multicentre, randomised, placebo-controlled trial
21. ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function
22. Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment
23. Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita
24. Mutations in the Telomerase Component NHP2 Cause the Premature Ageing Syndrome Dyskeratosis Congenita
25. Multinational Study on the Clinical and Genetic Features of the ERCC6L2-Disease
26. Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita
27. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
28. Molecular Characterization of G6PD Deficiency in Oman
29. Inherited aplastic anaemias/bone marrow failure syndromes
30. Leucocyte telomere length in patients with sickle cell disease
31. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome
32. Molecular and cytogenetic analysis
33. Haematological recovery in dyskeratosis congenita patients treated with danazol
34. Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice
35. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
36. Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis
37. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation
38. Dyskeratosis Congenita
39. Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation
40. Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia
41. Análisis molecular y citogenético
42. Autores
43. Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion
44. Dyskeratosis congenita and the DNA damage response
45. Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome
46. Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases
47. Genomic instability in Hoyeraal–Hreidarsson syndrome
48. Molecular and cytogenetic analysis
49. Contributors
50. Defining the Pathogenic Role of Telomerase Mutations in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Research Article
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