Lehrstuhl für Humangenetik

Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia (2019) Iqbal Z, Tawamie H, Ba W, Reis A, Halak BA, Sticht H, Uebe S, et al. Journal article Mitochondrial DNA copy number is associated with mortality and infections in a large cohort of patients with chronic kidney disease (2019) Fazzini F, Lamina C, Fendt L, Schultheiss UT, Kotsis F, Hicks AA, Meiselbach H, et al. Journal article Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature (2019) Hauer N, Popp B, Taher L, Vogl C, Dhandapany PS, Büttner C, Uebe S, et al. Journal article Macrophage phosphoproteome analysis reveals MINCLE-dependent and-independent mycobacterial cord factor signaling (2019) Hansen M, Peltier J, Killy B, Amin B, Bodendorfer B, HäRtlova A, Uebel S, et al. Journal article TRIM28 haploinsufficiency predisposes to Wilms tumor (2019) Diets IJ, Hoyer J, Ekici AB, Popp B, Hoogerbrugge N, van Reijmersdal SV, Bhaskaran R, et al. Journal article Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis (2019) Gong B, Zhang H, Huang L, Chen Y, Shi Y, Tam POS, Zhu X, et al. Journal article Zooming in on Cryopreservation of hiPSCs and Neural Derivatives: A Dual-Center Study Using Adherent Vitrification (2019) Kaindl J, Meiser I, Majer J, Sommer A, Krach F, Katsen-Globa A, Winkler J, et al. Journal article Inflammation-induced glycolytic switch controls suppressivity of mesenchymal stem cells via STAT1 glycosylation (2019) Jitschin R, Böttcher M, Saul D, Lukassen S, Bruns H, Loschinski R, Ekici AB, et al. Journal article Tideglusib Rescues Neurite Pathology of SPG11 iPSC Derived Cortical Neurons. (2018) Pozner T, Schray A, Regensburger M, Lie DC, Schlötzer-Schrehardt U, Winkler J, Turan S, Winner B Journal article Infection and Predictors of Outcome of Cirrhotic Patients after Emergency Care Hospital Admission (2018) Safi W, Elnegouly M, Schellnegger R, Umgelter K, Geisler F, Reindl W, Saugel B, et al. Journal article