Found: 4
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Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 5, p. 919, doi. 10.1093/hmg/dds497
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- Publication type:
- Article
A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02719-0
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- Publication type:
- Article
Bias in patient series with VACTERL association.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2039, doi. 10.1002/ajmg.a.33983
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- Publication type:
- Article
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3035, doi. 10.1002/ajmg.a.36153
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- Publication type:
- Article