Found: 4
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Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.
- Published in:
- Electrophoresis, 2007, v. 28, n. 23, p. 4295, doi. 10.1002/elps.200700118
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- Publication type:
- Article
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.
- Published in:
- Nature Genetics, 2001, v. 28, n. 1, p. 37, doi. 10.1038/ng0501-37
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- Publication type:
- Article
Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 5, p. 457, doi. 10.1111/cge.13826
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- Publication type:
- Article
CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 5, p. 1
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- Publication type:
- Article