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A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings.
- Published in:
- Human Genetics, 2022, v. 141, n. 12, p. 1875, doi. 10.1007/s00439-022-02466-5
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- Article
Biallelic disruption of DDX41 activity is associated with distinct genomic and immunophenotypic hallmarks in acute leukemia.
- Published in:
- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1153082
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- Article
Genomic Characterization of Partial Tandem Duplication Involving the KMT2A Gene in Adult Acute Myeloid Leukemia.
- Published in:
- Cancers, 2024, v. 16, n. 9, p. 1693, doi. 10.3390/cancers16091693
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- Article
TP53 Mutations in AML Patients Are Associated with Dismal Clinical Outcome Irrespective of Frontline Induction Regimen and Allogeneic Hematopoietic Cell Transplantation.
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- Cancers, 2023, v. 15, n. 12, p. 3210, doi. 10.3390/cancers15123210
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- Article
Molecular characterization of AML‐MRC reveals TP53 mutation as an adverse prognostic factor irrespective of MRC‐defining criteria, TP53 allelic state, or TP53 variant allele frequency.
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- Cancer Medicine, 2023, v. 12, n. 6, p. 6511, doi. 10.1002/cam4.5421
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- Article
The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia.
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- PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004311
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- Article
Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome.
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- Human Mutation, 2013, v. 34, n. 1, p. 103, doi. 10.1002/humu.22226
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- Article
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
- Published in:
- International Journal of Developmental Neuroscience, 2015, v. 47, p. 119, doi. 10.1016/j.ijdevneu.2015.04.319
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- Article