Zeitschriftenartikel (1266)
Zeitschriftenartikel
97 (2), S. 343 - 352 (2015)
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. The American Journal of Human Genetics
Zeitschriftenartikel
112 (31), S. E4236 - E4245 (2015)
Simultaneous deletion of the methylcytosine oxidases Tet1 and Tet3 increases transcriptome variability in early embryogenesis. Proceedings of the National Academy of Sciences of the United States of America
Zeitschriftenartikel
58 (8), S. 376 - 380 (2015)
FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. European Journal of Medical Genetics
Zeitschriftenartikel
25 (8), S. 1215 - 1228 (2015)
Quantification of GC-biased gene conversion in the human genome. Genome Research
Zeitschriftenartikel
36 (8), S. 815 - 822 (2015)
Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions. Human Mutations
Zeitschriftenartikel
469 (3), S. 409 - 420 (2015)
Cyclin Y phosphorylation- and 14-3-3-binding-dependent activation of PCTAIRE-1/CDK16. Biochemical Journal
Zeitschriftenartikel
60 (8), S. 419 - 425 (2015)
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? JOURNAL OF HUMAN GENETICS
Zeitschriftenartikel
52 (7), S. 476 - 483 (2015)
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. Journal of Medical Genetics
Zeitschriftenartikel
47 (7), S. 822 - 826 (2015)
Genome-wide patterns and properties of de novo mutations in humans. Nature Genetics
Zeitschriftenartikel
29 (7), S. 1037 - 1054 (2015)
miR-22 and miR-29a are members of the androgen receptor cistrome modulating LAMC1 and Mcl-1 in prostate cancer. Molecular Endocrinology
Zeitschriftenartikel
24 (12), S. 3335 - 3347 (2015)
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain. Human Molecular Genetics
Zeitschriftenartikel
112 (22), S. 7009 - 7014 (2015)
Structural rearrangements in the phage head-to-tail interface during assembly and infection. Proceedings of the National Academy of Sciences of the United States of America
Zeitschriftenartikel
7 (6), S. 2771 - 2793 (2015)
The Molecular Switch of Telomere Phages: High Binding Specificity of the PY54 Cro Lytic Repressor to a Single Operator Site. Viruses
Zeitschriftenartikel
23 (3), S. 367 - 377 (2015)
Effects of different oocyte retrieval and in vitro maturation systems on bovine embryo development and quality. Zygote
Zeitschriftenartikel
31 (6), S. 329 - 335 (2015)
Long noncoding RNAs in organogenesis: Making the difference. Trends in Genetics
Zeitschriftenartikel
16, S. 84 (2015)
Erratum: Induced pluripotent stem cell-derived neuronal cells from a sporadic Alzheimer's disease donor as a model for investigating AD-associated gene regulatory networks. BMC Genomics
Zeitschriftenartikel
47 (6), S. 647 - 653 (2015)
PDE3A mutations cause autosomal dominant hypertension with brachydactyly. Nature Genetics
Zeitschriftenartikel
58 (6-7), S. 364 - 368 (2015)
Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome. European Journal of Medical Genetics
Zeitschriftenartikel
25 (6), S. 825 - 835 (2015)
ChIP-exo signal associated with DNA-binding motifs provides insight into the genomic binding of the glucocorticoid receptor and cooperating transcription factors. Genome Res
Zeitschriftenartikel
36 (6), S. 593 - 598 (2015)
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. Human Mutations