Found: 9
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Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.
- Published in:
- Nature Genetics, 2000, v. 26, n. 3, p. 365, doi. 10.1038/81695
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- Publication type:
- Article
Confirmation of paternity suggests a new mutation in the factor VII gene: ‘Pater certus quouque est’ - Response to Girolami et al.
- Published in:
- 2005
- By:
- Publication type:
- Letter
Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion.
- Published in:
- British Journal of Haematology, 2005, v. 128, n. 3, p. 380, doi. 10.1111/j.1365-2141.2004.05296.x
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- Publication type:
- Article
Situs Inversus Totalis and a Novel ZIC3 Mutation in a Family with X-linked Heterotaxy.
- Published in:
- Congenital Heart Disease, 2013, v. 8, n. 2, p. E36, doi. 10.1111/j.1747-0803.2011.00602.x
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- Publication type:
- Article
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).
- Published in:
- 2009
- By:
- Publication type:
- Other
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 5, p. 861, doi. 10.1093/hmg/ddn411
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- Publication type:
- Article
Two rights make a wrong: human left-right malformations.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 10, p. 1565, doi. 10.1093/hmg/7.10.1565
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- Publication type:
- Article
Two rights make a wrong: human left–right malformations.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 10, p. 1565, doi. 10.1093/hmg/7.10.1565
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- Publication type:
- Article
A severe phenotype in mice with a duplication of exon 3 in the cystic fibrosis locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1561
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- Publication type:
- Article