Journal Article (144)
101.
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 102.
Journal Article
45 (4), pp. 567 - 580 (2012)
Dynamic protein-protein interaction wiring of the human spliceosome. Molecular Cell 103.
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 104.
Journal Article
335 (6070), pp. 823 - 828 (2012)
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes. Science 105.
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 106.
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) 107.
Journal Article
8 (2), pp. 495 - 503 (2012)
Dynamics of Srf, p300 and histone modifications during cardiac maturation in mouse. Molecular BioSystems 108.
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 109.
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 110.
Journal Article
13 Suppl 1, p. S2 - S2 (2012)
Detection of interacting transcription factors in human tissues using predicted DNA binding affinity. BMC Genomics 111.
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 112.
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 113.
Journal Article
7 (1), e30140 (2012)
Modeling of miRNA and drug action in the EGFR signaling pathway. PLoS One 114.
Journal Article
30 (3), pp. 224 - 226 (2012)
BLUEPRINT to decode the epigenetic signature written in blood. Nature biotechnology 115.
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 116.
Journal Article
7 (1), p. e29365 - e29365 (2012)
Long-term survival of hydrated resting eggs from Brachionus plicatilis. PLoS One 117.
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 118.
Journal Article
8, pp. 119 - 126 (2012)
Construction of a pig physical interactome using sequence homology and a comprehensive reference human interactome. Evolutionary Bioinformatics 119.
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 120.
Journal Article
28 (5), pp. 656 - 63 (2012)
Estimation of pairwise sequence similarity of mammalian enhancers with word neighbourhood counts. Bioinformatics