Zeitschriftenartikel (162)
41.
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15, 15:423 (2014)
Deletions of chromosomal regulatory boundaries are associated with congenital disease. Genome Biology: Biology for the Post-Genomic Era 42.
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83 (15), S. 1353 - 1358 (2014)
The rare TREM2 R47H variant exerts only a modest effect on Alzheimer disease risk. Neurology 43.
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6 (252), 252ra123 (2014)
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Science Translational Madicine 44.
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2 (5), S. 649 - 651 (2014)
The need of continuous focus on improved mentoring of trainees and young investigators in the field of andrology: highlights of current programs and opportunities for the future. Andrology 45.
Zeitschriftenartikel
9 (9), S. 1104 - 1114 (2014)
Personalized medicine approaches for colon cancer driven by genomics and systems biology: OncoTrack. Biotechnology Journal 46.
Zeitschriftenartikel
2 (5), S. 393 - 401 (2014)
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome. Molecular Genetics and Genomic Medicine 47.
Zeitschriftenartikel
66, S. 155 - 162 (2014)
Neurofibromin inactivation impairs osteocyte development in Nf1Prx1 and Nf1Col1 mouse models. Bone 48.
Zeitschriftenartikel
30 (17), S. 2456 - 2463 (2014)
Inferring the paths of somatic evolution in cancer. Bioinformatics 49.
Zeitschriftenartikel
46 (9), S. 989 - 993 (2014)
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease. Nature Genetics 50.
Zeitschriftenartikel
2014, 7:52 (2014)
Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up. Molecular Cytogenetics 51.
Zeitschriftenartikel
14 (16), S. 1882 - 1889 (2014)
Transcriptomics assisted proteomic analysis of Nicotiana occidentalis infected by Candidatus Phytoplasma mali strain AT. Proteomics 52.
Zeitschriftenartikel
2014, S. 1 - 12 (2014)
Transgenic expression of oncogenic BRAF induces loss of stem cells in the mouse intestine, which is antagonized by β-Catenin activity. Oncogene 53.
Zeitschriftenartikel
15, 15:675 (2014)
Influence of RNA extraction methods and library selection schemes on RNA-seq data. BMC Genomics 54.
Zeitschriftenartikel
393 (1-2), S. 1 - 7 (2014)
Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene. Molecular and Cellular Endocrinology 55.
Zeitschriftenartikel
112 (4), S. 310 - 316 (2014)
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. Molecular Genetics and Metabolism 56.
Zeitschriftenartikel
10 (8), S. 2023 - 2030 (2014)
Inferring cellular regulatory networks with Bayesian model averaging for linear regression (BMALR). Molecular BioSystems 57.
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124 (8), S. 3419 - 3430 (2014)
RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing. The Journal of Clinical Investigation 58.
Zeitschriftenartikel
42 (14), e110 (2014)
ARH-seq: identification of differential splicing in RNA-seq data. Nucleic Acids Research (London) 59.
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133, S. 23 - 35 (2014)
SRF is essential for mesodermal cell migration during elongation of the embryonic body axis. Mechanisms of Development 60.
Zeitschriftenartikel
15 (8), S. 777 - 788 (2014)
Epigenomic analysis of primary human T cells reveals enhancers associated with TH2 memory cell differentiation and asthma susceptibility. Nature Immunology