Found: 11
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Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.
- Published in:
- 2016
- By:
- Publication type:
- journal article
X-linked cataract and Nance-Horan syndrome are allelic disorders.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 14, p. 2643, doi. 10.1093/hmg/ddp206
- By:
- Publication type:
- Article
Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.
- Published in:
- BMC Genomics, 2005, v. 6, p. 1, doi. 10.1186/1471-2164-6-38
- By:
- Publication type:
- Article
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
- Published in:
- Nature Genetics, 2011, v. 43, n. 10, p. 929, doi. 10.1038/ng.923
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- Publication type:
- Article
An audit of screening for familial breast cancer before 50 years in the South Thames Region have we got it right?
- Published in:
- Familial Cancer, 2004, v. 3, n. 1, p. 29
- By:
- Publication type:
- Article
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.
- Published in:
- Nature Genetics, 2000, v. 25, n. 4, p. 419, doi. 10.1038/78107
- By:
- Publication type:
- Article
Clinical Presentation and Penetrance of Pheochromocytoma/Paraganglioma Syndromes.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 3, p. 827, doi. 10.1210/jc.2005-1862
- By:
- Publication type:
- Article
Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Diagnostic Use of Skeletal Survey in Suspected Skeletal Dysplasia.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2009, v. 1, n. 6, p. 270, doi. 10.4274/jcrpe.v1i6.270
- By:
- Publication type:
- Article
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggests a single entity with Cowden syndrome.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1461, doi. 10.1093/hmg/8.8.1461
- By:
- Publication type:
- Article
The mutational spectrum in Waardenburg syndrome.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 11, p. 2131
- By:
- Publication type:
- Article