Journal Article (1119)
921.
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 922.
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 923.
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 924.
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 925.
Journal Article
53 (6), pp. 357 - 364 (2012)
Directed evolution of nucleotide-based libraries using lambda exonuclease. Biotechniques 926.
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 927.
Journal Article
51 (12), pp. 1114 - 1124 (2012)
Involvement of the MLL gene in adult T-lymphoblastic leukemia. Genes, Chromosomes and Cancer 928.
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 929.
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 930.
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 931.
Journal Article
7 (11), p. e50134 - e50134 (2012)
Ataxin-2-like is a regulator of stress granules and processing bodies. PLoS One 932.
Journal Article
131 (10), pp. 2242 - 2252 (2012)
Wnt and BMP signals control intestinal adenoma cell fates. International Journal of Cancer 933.
Journal Article
586 (21), pp. 3819 - 3824 (2012)
Histaminylation of glutamine residues is a novel posttranslational modification implicated in G-protein signaling. FEBS Letters 934.
Journal Article
491 (7422), pp. 56 - 65 (2012)
An integrated map of genetic variation from 1,092 human genomes. Nature 935.
Journal Article
3 (11), p. 1356 - 1356 (2012)
Pyruvate kinase is a dosage-dependent regulator of cellular amino acid homeostasis. Oncotarget 936.
Journal Article
3 (11), pp. 1356 - 1369 (2012)
Pyruvate kinase is a dosage-dependent regulator of cellular amino acid homeostasis. Oncotarget 937.
Journal Article
2 (11), pp. 1024 - 1035 (2012)
Genome-wide DNA methylation events in TMPRSS2-ERG fusion-negative prostate cancers implicate an EZH2-dependent mechanism with miR-26a hypermethylation. Cancer Discovery 938.
Journal Article
131 (11), pp. 1761 - 1773 (2012)
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Human Genetics 939.
Journal Article
123 (4), pp. 589 - 601 (2012)
Ca++/CaMKII switches nociceptor-sensitizing stimuli into desensitizing stimuli. Journal of Neurochemistry: official journal of the International Society for Neurochemistry 940.
Journal Article
49 (11), pp. 721 - 726 (2012)
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. Journal of Medical Genetics (London)