Found: 4
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Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 5, p. 560, doi. 10.1111/cge.14274
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- Article
A Gardos channelopathy associated with nonimmune hydrops and fetal loss.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 6, p. 543, doi. 10.1111/cge.14217
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- Publication type:
- Article
The first two non‐Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 4, p. 462, doi. 10.1111/cge.14021
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- Publication type:
- Article
Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder.
- Published in:
- Human Mutation, 2021, v. 42, n. 5, p. 498, doi. 10.1002/humu.24188
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- Article