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A case of Huntington disease‐like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 12, p. 674, doi. 10.1002/bdr2.2065
- By:
- Publication type:
- Article
A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1753
- By:
- Publication type:
- Article