Journal Article (1124)
1021.
Journal Article
40 (6), pp. 2426 - 2431 (2012)
The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process. Nucleic Acids Research (London) 1022.
Journal Article
78 (4-5), pp. 393 - 405 (2012)
Survey of sugar beet (Beta vulgaris L.) hAT transposons and MITE-like hATpin derivatives. Plant Molecular Biology 1023.
Journal Article
45 (4), pp. 567 - 580 (2012)
Dynamic protein-protein interaction wiring of the human spliceosome. Molecular Cell 1024.
Journal Article
287 (9), pp. 6318 - 6325 (2012)
Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. The Journal of Biological Chemistry 1025.
Journal Article
335 (6070), pp. 823 - 828 (2012)
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes. Science 1026.
Journal Article
2012, p. e - e (2012)
Neurocognitive impairments in non-deprived smokers-results from a population-based multi-center study on smoking-related behavior. Addiction Biology 1027.
Journal Article
49 (2), pp. 119 - 125 (2012)
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Journal of Medical Genetics (London) 1028.
Journal Article
8 (2), pp. 495 - 503 (2012)
Dynamics of Srf, p300 and histone modifications during cardiac maturation in mouse. Molecular BioSystems 1029.
Journal Article
12 (12), p. 38 (2012)
Hsp90 inhibition differentially destabilises MAP kinase and TGF-beta signalling components in cancer cells revealed by kinase-targeted chemoproteomics. BMC Cancer 1030.
Journal Article
27 (2), pp. 429 - 442 (2012)
New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance. Journal of Bone and Mineral Research 1031.
Journal Article
13 Suppl 1, p. S2 - S2 (2012)
Detection of interacting transcription factors in human tissues using predicted DNA binding affinity. BMC Genomics 1032.
Journal Article
48 (1), pp. 62 - 67 (2012)
High levels of brain-type creatine kinase activity in human platelets and leukocytes: a genetic anomaly with autosomal dominant inheritance. Blood Cells Molecules and Diseases 1033.
Journal Article
90 (1), pp. 61 - 8 (2012)
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. The American Journal of Human Genetics 1034.
Journal Article
7 (1), e30140 (2012)
Modeling of miRNA and drug action in the EGFR signaling pathway. PLoS One 1035.
Journal Article
30 (3), pp. 224 - 226 (2012)
BLUEPRINT to decode the epigenetic signature written in blood. Nature biotechnology 1036.
Journal Article
20 (3), pp. 271 - 276 (2012)
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 1037.
Journal Article
7 (1), p. e29365 - e29365 (2012)
Long-term survival of hydrated resting eggs from Brachionus plicatilis. PLoS One 1038.
Journal Article
56 (10-11-12), pp. 789 - 797 (2012)
Comparative molecular portraits of human unfertilized oocytes and primordial germ cells at 10 weeks of gestation. International Journal of Developmental Biology 1039.
Journal Article
8, pp. 119 - 126 (2012)
Construction of a pig physical interactome using sequence homology and a comprehensive reference human interactome. Evolutionary Bioinformatics 1040.
Journal Article
28 (5), pp. 619 - 27 (2012)
Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS. Bioinformatics