apl. Prof. Dr. Ulrike Hüffmeier

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Institute of Human Genetics

Project Leads

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Publications

(47)

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition (2016) Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T, Beck-Woedl S, et al. Journal article Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1 (2016) Popp B, Trollmann R, Büttner C, Caliebe A, Thiel C, Hüffmeier U, Reis A, Zweier C Journal article Association analysis of psoriasis vulgaris and psoriatic arthritis with loss-of-function mutations in IL36RN in German patients (2016) Loehr S, Uebe S, Behrens F, Boehm B, Koehm M, Traupe H, Oji V, et al. Journal article Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients (2015) Moessner R, Frambach Y, Wilsmann-Theis D, Loehr S, Jacobi A, Weyergraf A, Mueller M, et al. Journal article Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis (2015) Bowes J, Budu-Aggrey A, Hüffmeier U, Uebe S, Steel K, Hebert HL, Wallace C, et al. Journal article PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus (2015) Bowes J, Loehr S, Budu-Aggrey A, Uebe S, Bruce IN, Feletar M, Marzo-Ortega H, et al. Journal article Mutations in IL36RN in patients with generalized pustular psoriasis (2013) Koerber A, Moessner R, Renner R, Sticht H, Wilsmann-Theis D, Schulz P, Sticherling M, et al. Journal article

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