Found: 18
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A Foundation for a Community Consortium in an Inherited Disease and Complete Mutation Collection.
- Published in:
- 2010
- By:
- Publication type:
- Other
Evaluating self-declared ancestry of U.S. Americans with autosomal, Y-chromosomal and mitochondrial DNA.
- Published in:
- Human Mutation, 2010, v. 31, n. 12, p. E1875, doi. 10.1002/humu.21366
- By:
- Publication type:
- Article
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.
- Published in:
- Human Mutation, 2010, v. 31, n. 12, p. 1294, doi. 10.1002/humu.21359
- By:
- Publication type:
- Article
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.
- Published in:
- Human Mutation, 2010, v. 31, n. 12, p. E1915, doi. 10.1002/humu.21372
- By:
- Publication type:
- Article
The ribosomal basis of diamond-blackfan anemia: mutation and database update.
- Published in:
- 2010
- By:
- Publication type:
- Other
COLD PCR HRM: a highly sensitive detection method for IDH1 mutations.
- Published in:
- Human Mutation, 2010, v. 31, n. 12, p. 1360, doi. 10.1002/humu.21365
- By:
- Publication type:
- Article
Increased sensitivity of KRAS mutation detection by high-resolution melting analysis of COLD-PCR products.
- Published in:
- Human Mutation, 2010, v. 31, n. 12, p. 1366, doi. 10.1002/humu.21358
- By:
- Publication type:
- Article
SOX17 Mutations Implicated in Urinary Tract Abnormalities.
- Published in:
- 2010
- By:
- Publication type:
- Other
Detection of clinically relevant exonic copy-number changes by array CGH.
- Published in:
- Human Mutation, 2010, v. 31, n. 12, p. 1326, doi. 10.1002/humu.21360
- By:
- Publication type:
- Article
Impact of DNA physical properties on local sequence bias of human mutation.
- Published in:
- Human Mutation, 2010, v. 31, n. 12, p. 1316, doi. 10.1002/humu.21371
- By:
- Publication type:
- Article
Generation and analysis of the thiazide-sensitive Na<sup>+</sup>-Cl<sup>−</sup> cotransporter (Ncc/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome.
- Published in:
- Human Mutation, 2010, v. 31, n. 12, p. 1304, doi. 10.1002/humu.21364
- By:
- Publication type:
- Article
D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase ( GLYCTK).
- Published in:
- Human Mutation, 2010, v. 31, n. 12, p. 1280, doi. 10.1002/humu.21375
- By:
- Publication type:
- Article
Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions.
- Published in:
- Human Mutation, 2010, v. 31, n. 12, p. 1343, doi. 10.1002/humu.21368
- By:
- Publication type:
- Article
How to catch all those mutations-the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010.
- Published in:
- Human Mutation, 2010, v. 31, n. 12, p. 1374, doi. 10.1002/humu.21379
- By:
- Publication type:
- Article
Triangulating in on Chimps, Neanderthals, and Man.
- Published in:
- 2010
- By:
- Publication type:
- Other
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
- Published in:
- Human Mutation, 2010, v. 31, n. 12, p. E1894, doi. 10.1002/humu.21367
- By:
- Publication type:
- Article
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.
- Published in:
- Human Mutation, 2010, v. 31, n. 12, p. 1352, doi. 10.1002/humu.21378
- By:
- Publication type:
- Article
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.
- Published in:
- Human Mutation, 2010, v. 31, n. 12, p. 1286, doi. 10.1002/humu.21389
- By:
- Publication type:
- Article