Found: 6
Select item for more details and to access through your institution.
A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00255-8
- By:
- Publication type:
- Article
A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00203-y
- By:
- Publication type:
- Article
Novel USP9X variants in two patients with X-linked intellectual disability.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0081-7
- By:
- Publication type:
- Article
Ehlers-Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene.
- Published in:
- Congenital Anomalies, 2012, v. 52, n. 4, p. 207, doi. 10.1111/j.1741-4520.2011.00353.x
- By:
- Publication type:
- Article
11q trisomy detected by fluorescence in situ hybridization.
- Published in:
- Clinical Genetics, 1993, v. 44, n. 6, p. 324, doi. 10.1111/j.1399-0004.1993.tb03909.x
- By:
- Publication type:
- Article
Association of hypercholesterolemia and apolipoprotein E4 in school children.
- Published in:
- Clinical Genetics, 1990, v. 38, n. 4, p. 264, doi. 10.1111/j.1399-0004.1990.tb03579.x
- By:
- Publication type:
- Article