Found: 6
Select item for more details and to access through your institution.
Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 417, doi. 10.1038/ejhg.2008.190
- By:
- Publication type:
- Article
Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 187, doi. 10.1038/ejhg.2008.147
- By:
- Publication type:
- Article
Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.
- Published in:
- 2009
- By:
- Publication type:
- Correction notice
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
- Published in:
- Human Genetics, 2020, v. 139, n. 11, p. 1443, doi. 10.1007/s00439-020-02188-6
- By:
- Publication type:
- Article
Identification of genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation.
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 1, doi. 10.1186/1755-8166-2-10
- By:
- Publication type:
- Article
Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 13, p. 2185, doi. 10.1093/hmg/ddab373
- By:
- Publication type:
- Article