Found: 8
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Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study.
- Published in:
- Journal of Hematology & Oncology, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13045-024-01547-4
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- Publication type:
- Article
Next‐generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1856, doi. 10.1002/humu.24469
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- Publication type:
- Article
Fanconi anaemia: A syndrome with distinct subgroups.
- Published in:
- British Journal of Haematology, 2022, v. 197, n. 4, p. 467, doi. 10.1111/bjh.18091
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- Publication type:
- Article
Prognostic impact of pre-transplant chromosomal aberrations in peripheral blood of patients undergoing unrelated donor hematopoietic cell transplant for acute myeloid leukemia.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-94539-0
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- Publication type:
- Article
The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1693
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- Publication type:
- Article
Pre‐transplant short telomeres are associated with high mortality risk after unrelated donor haematopoietic cell transplant for severe aplastic anaemia.
- Published in:
- British Journal of Haematology, 2020, v. 188, n. 2, p. 309, doi. 10.1111/bjh.16153
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- Publication type:
- Article
Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.
- Published in:
- Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0607-5
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- Publication type:
- Article
Dyskeratosis congenita with a novel genetic variant in the <italic>DKC1</italic> gene: a case report.
- Published in:
- 2018
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- Publication type:
- Case Study