39 results on '"Vulliamy, Tom"'
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2. Inherited bone marrow failure in the pediatric patient
3. Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
4. Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes
5. ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants
6. P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*
7. DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation
8. ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function
9. Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita
10. Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
11. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
12. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome
13. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation
14. Dyskeratosis Congenita
15. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure
16. Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency
17. Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita–like phenotypes
18. Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome
19. Hematologically Important Mutations: Glucose-6-phosphate Dehydrogenase
20. Multinational Study on the Clinical and Genetic Features of the ERCC6L2-Disease
21. Very Short Telomeres in the Peripheral Blood of Patients with X-Linked and Autosomal Dyskeratosis Congenita
22. Molecular Basis and Enzymatic Properties of Glucose 6-Phosphate Dehydrogenase Volendam, Leading to Chronic Nonspherocytic Anemia, Granulocyte Dysfunction, and Increased Susceptibility to Infections
23. Human Hexose-6-phosphate Dehydrogenase (Glucose 1-Dehydrogenase) Encoded at 1p36: Coding Sequence and Expression
24. DKC1 mutation causing different phenotypes in a family with X-linked Hoyeraal-Hreidarsson syndrome
25. Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita
26. 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
27. Development of a Data Portal for Aggregation and Analysis of Genomics Data in Familial Platelet Disorder with Predisposition to Myeloid Malignancy - the RUNX1.DB
28. Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and Myelodysplasia
29. Variable Penetrance Is Linked with Monoallelic Gene Expression in Inherited GATA2-Mutated MDS/AML
30. Telomere Lengths Correlate With Inflammatory Markers In Sickle Cell Disease
31. Low Dose Alemtuzumab Achieves Long-Term Engraftment with Low Level Mixed Chimerism in Related Haemopoietic Stem Cell Transplantation for Haemoglobinopathies
32. Defective Telomerase in Familial Myelodysplasia and Leukemia
33. A Novel Therapeutic Approach in Triosephosphate Isomerase Deficiency.
34. Genome Wide Linkage Analysis Suggests Genetic Heterogeneity in Autosomal Recessive Dyskeratosis Congenita, with One Locus on Chromosome 15.
35. A Novel hTERC Deletion Manifesting with Features of Dyskeratosis Congenita and Genetic Anticipation.
36. Hematologically Important Mutations: Glucose-6-phosphate Dehydrogenase
37. Hematologically Important Mutations: Glucose-6-Phosphate Dehydrogenase
38. Organization of the Human Protein 4.1 Genomic Locus: New Insights into the Tissue-Specific Alternative Splicing of the Pre-mRNA
39. Human red cell glucose-6-phosphate dehydrogenase is encoded only on the X chromosome
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