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Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
- Published in:
- Nature Communications, 2015, v. 6, n. 9, p. 8085, doi. 10.1038/ncomms9085
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- Publication type:
- Article
A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 8, p. 2259, doi. 10.3390/ijms19082259
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- Publication type:
- Article
Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
- Published in:
- 2019
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- Publication type:
- Correction Notice
P-selectin mobility undergoes a sol-gel transition as it diffuses from exocytosis sites into the cell membrane.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30669-x
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- Publication type:
- Article
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.
- Published in:
- 2016
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- Publication type:
- journal article
Novel domain architectures and functional determinants in atypical annexins revealed by phylogenomic analysis.
- Published in:
- Biological Chemistry, 2017, v. 398, n. 7, p. 751, doi. 10.1515/hsz-2016-0273
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- Publication type:
- Article
Human phenotypes caused by <italic>PIEZO1</italic> mutations; one gene, two overlapping phenotypes?
- Published in:
- Journal of Physiology, 2018, v. 596, n. 6, p. 985, doi. 10.1113/JP275718
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- Publication type:
- Article
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 14, p. 1250, doi. 10.1093/hmg/ddae060
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- Publication type:
- Article