Suchergebnisse
Alle Typen
Zeitschriftenartikel (237)
21.
Zeitschriftenartikel
50 (5), S. 662 - 667 (2018)
Polymer physics predicts the effects of structural variants on chromatin architecture. Nature Genetics 22.
Zeitschriftenartikel
41 (3), S. 533 - 539 (2018)
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism. Journal of Inherited Metabolic Disease 23.
Zeitschriftenartikel
176 (3), S. 668 - 675 (2018)
Cutis Laxa and Excessive Bone Growth due to de novo mutations in PTDSS1. American Journal of Medical Genetics Part A 24.
Zeitschriftenartikel
10 (1), 10(1):3 (2018)
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. Genome Medicine 25.
Zeitschriftenartikel
14 (3), e1007242 (2018)
Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica. PLoS Genetics 26.
Zeitschriftenartikel
13 (6), e0198510 (2018)
Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation. PLoS One 27.
Zeitschriftenartikel
77 (Suppl.1), S. S12 - S15 (2018)
Osteoimmunologie – IMMUNOBONE: Regulation des Knochens durch Entzündung. Zeitschrift für Rheumatologie 28.
Zeitschriftenartikel
29 (1), S. 243 - 246 (2018)
A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. Osteoporosis International 29.
Zeitschriftenartikel
101 (5), S. 833 - 843 (2017)
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. The American Journal of Human Genetics 30.
Zeitschriftenartikel
49 (10), S. 1539 - 1545 (2017)
Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog). Nature Genetics 31.
Zeitschriftenartikel
27 (2), S. 223 - 233 (2017)
Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding. Genome Research 32.
Zeitschriftenartikel
13 (1), e1006567 (2017)
Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF. PLoS Genetics 33.
Zeitschriftenartikel
538 (7624), S. 265 - 269 (2016)
Formation of novel chromatin domains determines pathogenicity of genomic duplications. Nature 34.
Zeitschriftenartikel
25 (R2), S. R157 - R165 (2016)
Looking beyond the genes: the role of non-coding variants in human disease. Human Molecular Genetics 35.
Zeitschriftenartikel
25 (17), S. 3836 - 3848 (2016)
The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface. Human Molecular Genetics 36.
Zeitschriftenartikel
2016, btw550 (2016)
A likelihood ratio based method to predict exact pedigrees for complex families from next-generation sequencing data. Bioinformatics 37.
Zeitschriftenartikel
24 (8), S. 1132 - 1136 (2016)
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. European journal of human genetics 38.
Zeitschriftenartikel
37 (8), S. 737 - 744 (2016)
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. Human Mutations 39.
Zeitschriftenartikel
170A (5), S. 1202 - 1207 (2016)
Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement. American Journal of Medical Genetics Part A 40.
Zeitschriftenartikel
32 (4), S. 225 - 237 (2016)
Breaking TADs: How Alterations of Chromatin Domains Result in Disease. Trends in Genetics