Journal Article (29)
21.
Journal Article
9 (1), 9:10 (2018)
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells. Biology of Sex Differences 22.
Journal Article
27 (4), pp. 589 - 600 (2018)
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis. Human Molecular Genetics 23.
Journal Article
23 (2), pp. 222 - 230 (2018)
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Molecular Psychiatry 24.
Journal Article
7 (1), bio.028498 (2018)
A dual transcript-discovery approach to improve the delimitation of gene features from RNA-seq data in the chicken model. Biology Open 25.
Journal Article
10 (1), 10(1):3 (2018)
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. Genome Medicine 26.
Journal Article
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 27.
Journal Article
13 (6), e0198510 (2018)
Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation. PLoS One 28.
Journal Article
77 (Suppl.1), pp. S12 - S15 (2018)
Osteoimmunologie – IMMUNOBONE: Regulation des Knochens durch Entzündung. Zeitschrift für Rheumatologie 29.
Journal Article
29 (1), pp. 243 - 246 (2018)
A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. Osteoporosis International