Found: 3
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Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1024, doi. 10.1002/jimd.12232
- By:
- Publication type:
- Article
Expanding the phenotype of GTF2E2‐associated trichothiodystrophy.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2024, v. 38, n. 3, p. e222, doi. 10.1111/jdv.19545
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- Publication type:
- Article