Institute of Human Genetics


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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

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Abstract

Journal

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome (2017) Dikow N, Granzow M, Graul-Neumann LM, Karch S, Hinderhofer K, Paramasivam N, Behl LJ, et al. Journal article Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia (2017) Allison R, Edgar JR, Pearson G, Rizo T, Newton T, Guenther S, Berner F, et al. Journal article Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer (2017) Phelan CM, Kuchenbaecker KB, Tyrer JP, Kar SP, Lawrenson K, Winham SJ, Dennis J, et al. Journal article Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci (2017) Aung T, Ozaki M, Lee MC, Schlötzer-Schrehardt U, Thorleifsson G, Mizoguchi T, Igo RP, et al. Journal article Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients (2017) Uebe S, Ehrlicher M, Ekici AB, Behrens F, Boehm B, Homuth G, Schurmann C, et al. Journal article Predicting Triple-Negative Breast Cancer Subtype Using Multiple Single Nucleotide Polymorphisms for Breast Cancer Risk and Several Variable Selection Methods (2017) Häberle L, Hein A, Rübner M, Schneider M, Ekici AB, Gaß P, Hartmann A, et al. Journal article The Nuclear Receptor Nr4a1 Acts as a Microglia Rheostat and Serves as a Therapeutic Target in Autoimmune-Driven Central Nervous System Inflammation (2017) Rothe T, Ipseiz N, Faas M, Lang S, Perez-Branguli F, Metzger D, Ichinose H, et al. Journal article A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica (2017) Lobo-Prada T, Sticht H, Bogantes-Ledezma S, Ekici AB, Uebe S, Reis A, Leal A Journal article EFhd2/Swiprosin-1 is a common genetic determinator for sensation-seeking/low anxiety and alcohol addiction (2017) Mielenz D, Reichel M, Jia T, Quinlan EB, Stöckl T, Mettang M, Zilske D, et al. Journal article, Original article IFN-α/IFN-λ responses to respiratory viruses in paediatric asthma (2017) Bergauer A, Sopel N, Kross B, Vuorinen T, Xepapadaki P, Weiss ST, Blau A, et al. Journal article