Works matching IS 03406717 AND DT 2014 AND VI 133 AND IP 1
Results: 10
Haptoglobin ( HP) and Haptoglobin-related protein ( HPR) copy number variation, natural selection, and trypanosomiasis.
- Published in:
- Human Genetics, 2014, v. 133, n. 1, p. 69, doi. 10.1007/s00439-013-1352-x
- By:
- Publication type:
- Article
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
- Published in:
- Human Genetics, 2014, v. 133, n. 1, p. 95, doi. 10.1007/s00439-013-1355-7
- By:
- Publication type:
- Article
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.
- Published in:
- Human Genetics, 2014, v. 133, n. 1, p. 1, doi. 10.1007/s00439-013-1358-4
- By:
- Publication type:
- Article
Genetic interactions found between calcium channel genes modulate amyloid load measured by positron emission tomography.
- Published in:
- Human Genetics, 2014, v. 133, n. 1, p. 85, doi. 10.1007/s00439-013-1354-8
- By:
- Publication type:
- Article
WNT10A variants are associated with non-syndromic tooth agenesis in the general population.
- Published in:
- Human Genetics, 2014, v. 133, n. 1, p. 117, doi. 10.1007/s00439-013-1360-x
- By:
- Publication type:
- Article
The missing 'link': an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
- Published in:
- Human Genetics, 2014, v. 133, n. 1, p. 29, doi. 10.1007/s00439-013-1351-y
- By:
- Publication type:
- Article
Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome.
- Published in:
- Human Genetics, 2014, v. 133, n. 1, p. 59, doi. 10.1007/s00439-013-1356-6
- By:
- Publication type:
- Article
Genetic testing and genetic counseling among medicaid-enrolled children with autism spectrum disorder in 2001 and 2007.
- Published in:
- Human Genetics, 2014, v. 133, n. 1, p. 111, doi. 10.1007/s00439-013-1362-8
- By:
- Publication type:
- Article
The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.
- Published in:
- Human Genetics, 2014, v. 133, n. 1, p. 11, doi. 10.1007/s00439-013-1353-9
- By:
- Publication type:
- Article
Genome-wide association study and meta-analysis of intraocular pressure.
- Published in:
- Human Genetics, 2014, v. 133, n. 1, p. 41, doi. 10.1007/s00439-013-1349-5
- By:
- Publication type:
- Article