Found: 17
Select item for more details and to access through your institution.
Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions.
- Published in:
- Human Genetics, 2000, v. 107, n. 4, p. 362, doi. 10.1007/s004390000393
- By:
- Publication type:
- Article
The functional spectrum of low-frequency coding variation.
- Published in:
- Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r84
- By:
- Publication type:
- Article
Guanine Holes Are Prominent Targets for Mutation in Cancer and Inherited Disease.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 9, p. 1, doi. 10.1371/journal.pgen.1003816
- By:
- Publication type:
- Article
Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections.
- Published in:
- Human Genetics, 2023, v. 142, n. 2, p. 245, doi. 10.1007/s00439-022-02500-6
- By:
- Publication type:
- Article
The Human Gene Mutation Database (HGMD<sup>®</sup>): optimizing its use in a clinical diagnostic or research setting.
- Published in:
- Human Genetics, 2020, v. 139, n. 10, p. 1197, doi. 10.1007/s00439-020-02199-3
- By:
- Publication type:
- Article
Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity.
- Published in:
- Human Mutation, 2005, v. 26, n. 3, p. 205, doi. 10.1002/humu.20212
- By:
- Publication type:
- Article
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs (Communicated by Linda Tyfield).
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 229, doi. 10.1002/humu.10254
- By:
- Publication type:
- Article
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination?associated motifsCommunicated by Linda Tyfield.
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 229, doi. 10.1002/humu.10254
- By:
- Publication type:
- Article
Human Gene Mutation Database (HGMD<sup>®</sup>): 2003 update(Communicated by Richard G.H. Cotton).
- Published in:
- Human Mutation, 2003, v. 21, n. 6, p. 577, doi. 10.1002/humu.10212
- By:
- Publication type:
- Article
Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity.
- Published in:
- Human Mutation, 2003, v. 21, n. 1, p. 28, doi. 10.1002/humu.10146
- By:
- Publication type:
- Article
Human Gene Mutation Database-A biomedical information and research resource.
- Published in:
- Human Mutation, 2000, v. 15, n. 1, p. 45, doi. 10.1002/(SICI)1098-1004(200001)15:1<45::AID-HUMU10>3.0.CO;2-T
- By:
- Publication type:
- Article
The human gene mutation database.
- Published in:
- Nucleic Acids Research, 1998, v. 26, n. 1, p. 287
- By:
- Publication type:
- Article
Distinct sequence features underlie microdeletions and gross deletions in the human genome.
- Published in:
- Human Mutation, 2022, v. 43, n. 3, p. 328, doi. 10.1002/humu.24314
- By:
- Publication type:
- Article
Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1137, doi. 10.1002/humu.21547
- 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
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. 631, doi. 10.1002/humu.21260
- By:
- Publication type:
- Article
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
- Published in:
- Genome Biology, 2014, v. 15, n. 1, p. 1, doi. 10.1186/gb-2014-15-1-r19
- By:
- Publication type:
- Article