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Zeitschriftenartikel (239)
21.
Zeitschriftenartikel
19 (7), S. 453 - 467 (2018)
Structural variation in the 3D genome. Nature Reviews Genetics 22.
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20 (6), S. 599 - 607 (2018)
Noncoding copy-number variations are associated with congenital limb malformation. GENETICS IN MEDICINE 23.
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50 (5), S. 662 - 667 (2018)
Polymer physics predicts the effects of structural variants on chromatin architecture. Nature Genetics 24.
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 25.
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 26.
Zeitschriftenartikel
10 (1), 10(1):3 (2018)
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. Genome Medicine 27.
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 28.
Zeitschriftenartikel
13 (6), e0198510 (2018)
Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation. PLoS One 29.
Zeitschriftenartikel
77 (Suppl.1), S. S12 - S15 (2018)
Osteoimmunologie – IMMUNOBONE: Regulation des Knochens durch Entzündung. Zeitschrift für Rheumatologie 30.
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 31.
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 32.
Zeitschriftenartikel
49 (10), S. 1539 - 1545 (2017)
Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog). Nature Genetics 33.
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27 (2), S. 223 - 233 (2017)
Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding. Genome Research 34.
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13 (1), e1006567 (2017)
Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF. PLoS Genetics 35.
Zeitschriftenartikel
538 (7624), S. 265 - 269 (2016)
Formation of novel chromatin domains determines pathogenicity of genomic duplications. Nature 36.
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25 (R2), S. R157 - R165 (2016)
Looking beyond the genes: the role of non-coding variants in human disease. Human Molecular Genetics 37.
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 38.
Zeitschriftenartikel
2016, btw550 (2016)
A likelihood ratio based method to predict exact pedigrees for complex families from next-generation sequencing data. Bioinformatics 39.
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 40.
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