14 results on '"Vulliamy, Tom"'
Search Results
2. Acquired somatic variants in inherited myeloid malignancies
3. High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders
4. Germline NPM1 mutations lead to altered rRNA 2′-O-methylation and cause dyskeratosis congenita
5. The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
6. GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML
7. Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita
8. Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice
9. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
10. Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis
11. Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split
12. At least five polymorphic mutants account for the prevalence of glucose-6-phosphate dehydrogenase deficiency in Algeria
13. G6PD Mediterranean accounts for the high prevalence of G6PD deficiency in Kurdish Jews
14. A PvuII restriction fragment length polymorphism of the glucose-6-phosphate dehydrogenase gene is an African-specific marker
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.