Journal Article (161)
1.
Journal Article
7 (12), e52700 (2012)
Functional comparison of chronological and in vitro aging: differential role of the cytoskeleton and mitochondria in mesenchymal stromal cells. PLoS One 2.
Journal Article
21 (24), pp. 5359 - 5372 (2012)
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Human Molecular Genetics 3.
Journal Article
2012, p. e - e (2012)
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring. European journal of human genetics: EJHG ; the official journal of the European Society of Human Genetics 4.
Journal Article
6, pp. 317 - 327 (2012)
Methods of Combinatorial Optimization to Reveal Factors Affecting Gene Length. Bioinformatics and Biology Insights 5.
Journal Article
91 (6), pp. 1022 - 1031 (2012)
Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing. The American Journal of Human Genetics 6.
Journal Article
7 (12), e44591 (2012)
Mutations of the EPHB6 receptor tyrosine kinase induce a pro-metastatic phenotype in non-small cell lung cancer. PLoS One 7.
Journal Article
2012, p. e - e (2012)
Identification of a Novel Missense Mutation in EDAR Causing Autosomal Recessive Hypohidrotic Ectodermal Dysplasia with Bilateral Amastia and Palmoplantar Hyperkeratosis. British Journal of Dermatology 8.
Journal Article
48 (3), pp. 391 - 398 (2012)
Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. Neurobiology of Disease 9.
Journal Article
53 (6), pp. 357 - 364 (2012)
Directed evolution of nucleotide-based libraries using lambda exonuclease. Biotechniques 10.
Journal Article
372 (1), pp. 55 - 67 (2012)
In vivo knockdown of Brachyury results in skeletal defects and urorectal malformations resembling caudal regression syndrome. Developmental Biology 11.
Journal Article
51 (12), pp. 1114 - 1124 (2012)
Involvement of the MLL gene in adult T-lymphoblastic leukemia. Genes, Chromosomes and Cancer 12.
Journal Article
130 (2), pp. 427 - 439 (2012)
RNA-Seq provides new insights in the transcriptome responses induced by the carcinogen benzo[a]pyrene. Toxicological Sciences 13.
Journal Article
7 (11), p. e50393 (2012)
Identification of biomarkers of human skin ageing in both genders. Wnt signalling - a label of skin ageing? PLoS One 14.
Journal Article
2012, p. e - e (2012)
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 15.
Journal Article
7 (11), p. e50134 - e50134 (2012)
Ataxin-2-like is a regulator of stress granules and processing bodies. PLoS One 16.
Journal Article
131 (10), pp. 2242 - 2252 (2012)
Wnt and BMP signals control intestinal adenoma cell fates. International Journal of Cancer 17.
Journal Article
586 (21), pp. 3819 - 3824 (2012)
Histaminylation of glutamine residues is a novel posttranslational modification implicated in G-protein signaling. FEBS Letters 18.
Journal Article
491 (7422), pp. 56 - 65 (2012)
An integrated map of genetic variation from 1,092 human genomes. Nature 19.
Journal Article
3 (11), p. 1356 - 1356 (2012)
Pyruvate kinase is a dosage-dependent regulator of cellular amino acid homeostasis. Oncotarget 20.
Journal Article
3 (11), pp. 1356 - 1369 (2012)
Pyruvate kinase is a dosage-dependent regulator of cellular amino acid homeostasis. Oncotarget