42 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. GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML
16. P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*
17. Air pollution, ethnicity and telomere length in east London schoolchildren: An observational study
18. DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation
19. The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
20. Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment
21. Multinational Study on the Clinical and Genetic Features of the ERCC6L2-Disease
22. Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita–like phenotypes
23. Laboratory diagnosis of G6PD deficiency. A British Society for Haematology Guideline.
24. Myeloid Malignancy Variant Curation Expert Panel: An ASH-Sponsored Clingen Expert Panel to Optimize and Validate Acmg/AMP Variant Interpretation Guidelines for Genes Associated with Inherited Myeloid Neoplasms
25. Development of a Data Portal for Aggregation and Analysis of Genomics Data in Familial Platelet Disorder with Predisposition to Myeloid Malignancy - the RUNX1.DB
26. Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease
27. Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data
28. Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies
29. The Human Phenotype Ontology in 2017
30. Urinary prostanoids in preschool wheeze
31. Variable Penetrance Is Linked with Monoallelic Gene Expression in Inherited GATA2-Mutated MDS/AML
32. The Human Phenotype Ontology in 2017
33. Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data
34. Relative telomere lengths in tumor and normal mucosa are related to disease progression and chromosome instability profiles in colorectal cancer
35. Germline NPM1mutations lead to altered rRNA 2'-O-methylation and cause dyskeratosis congenita
36. In-vitro analysis of the effects of TA65 and danazol on the proliferation and telomerase activity of T lymphocytes in bone marrow failure syndromes
37. Parent-determined oral montelukast therapy for preschool wheeze with stratification for arachidonate 5-lipoxygenase (ALOX5) promoter genotype: a multicentre, randomised, placebo-controlled trial
38. GATA2monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML
39. Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
40. Clinical utility gene card for: Dyskeratosis congenita - update 2015.
41. Disease characteristics and outcomes of acute myeloid leukemia in germline RUNX1 deficiency (Familial Platelet Disorder with associated Myeloid Malignancy).
42. Urinary prostanoids in preschool wheeze.
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