Human Genomics - 2012

27 articles | Last updated: 2025-12-03 14:12:57
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T A T A T A T A
A new era in the discovery of de novomutations underlying human genetic disease
16th Carbonyl Metabolism Meeting: from enzymology to genomics
The human crystallin gene families
Association of genome variations in the renin-angiotensin system with physical performance Greek athletes; healthy Greek adults
An emerging role for microRNAs in NF1 tumorigenesis
Conservation of the three-dimensional structure in non-homologous or unrelated proteins
Pseudoexfoliation syndrome, a systemic disorder with ocular manifestations Nordic population; different populations; German cohort
Strong interaction between T allele of endothelial nitric oxide synthase with B1 allele of cholesteryl ester transfer protein TaqIB highly elevates the risk of coronary artery disease and type 2 diabe
6th Golden Helix Pharmacogenomics Day: pharmacogenomics and individualized therapy
Collaborative software for traditional and translational research
Review of “Molecules that Changed the World” by KC Nikolaou and T Montagnon
The human protein disulfide isomerase gene family
Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1
Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics
Usability survey of biomedical question answering systems
Patterns of gene expression in microarrays and expressed sequence tags from normal and cataractous lenses
Identification of functional DNA variants in the constitutive promoter region of MDM2 individuals of European descent
Mitochondrial and nuclear genomics and the emergence of personalized medicine
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations?
CXCL5 polymorphisms are associated with variable blood pressure in cardiovascular disease-free adults
‘Sifting the significance from the data’ - the impact of high-throughput genomic technologies on human genetics and health care
Local sequence determinants of two in-frame triplet deletion/duplication hotspots in the RHD/RHCEgenes
GWIDD: a comprehensive resource for genome-wide structural modeling of protein-protein interactions
Estimating ancestral proportions in a multi-ethnic US sample: implications for studies of admixed populations
A new home for Human Genomics
SNPTrackTM: an integrated bioinformatics system for genetic association studies
Gene family matters: expanding the HGNC resource