Works matching IS 03406717 AND DT 2014 AND VI 133 AND IP 6
Results: 13
Lyle Armstrong: Epigenetics.
- Published in:
- 2014
- By:
- Publication type:
- Book Review
Identification of rare genetic variants in novel loci associated with Paget's disease of bone.
- Published in:
- Human Genetics, 2014, v. 133, n. 6, p. 755, doi. 10.1007/s00439-013-1409-x
- By:
- Publication type:
- Article
Genomics meets proteomics: identifying the culprits in disease.
- Published in:
- Human Genetics, 2014, v. 133, n. 6, p. 689, doi. 10.1007/s00439-013-1376-2
- By:
- Publication type:
- Article
Determining causality and consequence of expression quantitative trait loci.
- Published in:
- Human Genetics, 2014, v. 133, n. 6, p. 727, doi. 10.1007/s00439-014-1446-0
- By:
- Publication type:
- Article
Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders.
- Published in:
- Human Genetics, 2014, v. 133, n. 6, p. 781, doi. 10.1007/s00439-013-1416-y
- By:
- Publication type:
- Article
A novel variant in the 3′ UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH's binding.
- Published in:
- Human Genetics, 2014, v. 133, n. 6, p. 801, doi. 10.1007/s00439-014-1422-8
- By:
- Publication type:
- Article
Analysis of coding variants identified from exome sequencing resources for association with diabetic and non-diabetic nephropathy in African Americans.
- Published in:
- Human Genetics, 2014, v. 133, n. 6, p. 769, doi. 10.1007/s00439-013-1415-z
- By:
- Publication type:
- Article
Cancer genomics identifies disrupted epigenetic genes.
- Published in:
- Human Genetics, 2014, v. 133, n. 6, p. 713, doi. 10.1007/s00439-013-1373-5
- By:
- Publication type:
- Article
The grammar of transcriptional regulation.
- Published in:
- Human Genetics, 2014, v. 133, n. 6, p. 701, doi. 10.1007/s00439-013-1413-1
- By:
- Publication type:
- Article
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.
- Published in:
- Human Genetics, 2014, v. 133, n. 6, p. 737, doi. 10.1007/s00439-013-1406-0
- By:
- Publication type:
- Article
Engineered chromosome-based genetic mapping establishes a 3.7 Mb critical genomic region for Down syndrome-associated heart defects in mice.
- Published in:
- Human Genetics, 2014, v. 133, n. 6, p. 743, doi. 10.1007/s00439-013-1407-z
- By:
- Publication type:
- Article
Genomics of alternative splicing: evolution, development and pathophysiology.
- Published in:
- Human Genetics, 2014, v. 133, n. 6, p. 679, doi. 10.1007/s00439-013-1411-3
- By:
- Publication type:
- Article
Genome-wide copy number variation study and gene expression analysis identify ABI3BP as a susceptibility gene for Kashin-Beck disease.
- Published in:
- Human Genetics, 2014, v. 133, n. 6, p. 793, doi. 10.1007/s00439-014-1418-4
- By:
- Publication type:
- Article