Chromatinopathies – from discovery to clinical diagnosis in the real world.
- Published in:
- 2024
- By:
- Publication type:
- Editorial
Works matching IS 03406717 AND DT 2024 AND VI 143 AND IP 4
Results: 9
1
2
Functional categorization of gene regulatory variants that cause Mendelian conditions.
- Published in:
- Human Genetics, 2024, v. 143, n. 4, p. 559, doi. 10.1007/s00439-023-02639-w
- By:
- Publication type:
- Article
3
The omics era: a nexus of untapped potential for Mendelian chromatinopathies.
- Published in:
- Human Genetics, 2024, v. 143, n. 4, p. 475, doi. 10.1007/s00439-023-02560-2
- By:
- Publication type:
- Article
4
H2A monoubiquitination: insights from human genetics and animal models.
- Published in:
- Human Genetics, 2024, v. 143, n. 4, p. 511, doi. 10.1007/s00439-023-02557-x
- By:
- Publication type:
- Article
5
DNA methylation signatures for chromatinopathies: current challenges and future applications.
- Published in:
- Human Genetics, 2024, v. 143, n. 4, p. 551, doi. 10.1007/s00439-023-02544-2
- By:
- Publication type:
- Article
6
Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins.
- Published in:
- Human Genetics, 2024, v. 143, n. 4, p. 529, doi. 10.1007/s00439-023-02540-6
- By:
- Publication type:
- Article
7
Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
- Published in:
- Human Genetics, 2024, v. 143, n. 4, p. 607, doi. 10.1007/s00439-023-02537-1
- By:
- Publication type:
- Article
8
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species.
- Published in:
- Human Genetics, 2024, v. 143, n. 4, p. 497, doi. 10.1007/s00439-023-02536-2
- By:
- Publication type:
- Article
9
Interpreting variants in genes affected by clonal hematopoiesis in population data.
- Published in:
- Human Genetics, 2024, v. 143, n. 4, p. 545, doi. 10.1007/s00439-023-02526-4
- By:
- Publication type:
- Article