Lehrstuhl für Kinder- und Jugendmedizin

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 Cherry-red spot in a 13-month-old child (2016) Hohberger B, Stenger N, Trollmann R, Mardin CY, Gusek-Schneider GC Journal article, Report Spectrum, Applicability and Diagnostic Capacity of Contrast-Enhanced Ultrasound in Pediatric Patients and Young Adults after Intravenous Application - A Retrospective Trial (2016) Knieling F, Strobel D, Rompel O, Zapke M, Menendez-Castro C, Woelfel M, Schulz J, et al. Journal article Long-term positive and negative psychosocial outcomes in young childhood cancer survivors, type 1 diabetics and their healthy peers (2016) Kremer AL, Schieber K, Metzler M, Schuster S, Erim Y Journal article Electric Field-Induced Osteogenic Differentiation on TiO2 Nanotubular Layer (2016) Park JH, Mazare AV, Schneider H, Mark K, Fischer M, Schmuki P Journal article Cavernous sinus thrombosis as a rare cause of exophthalmos in childhood : A case report (2016) Kamawal A, Schmidt MA, Rompel O, Gusek-Schneider GC, Mardin CY, Trollmann R Journal article, Medical case study Alpha8 Integrin (Itga8) Signalling Attenuates Chronic Renal Interstitial Fibrosis by Reducing Fibroblast Activation, Not by Interfering with Regulation of Cell Turnover (2016) Marek I, Lichtneger TS, Cordasic N, Hilgers KF, Volkert G, Fahlbusch F, Rascher W, et al. Journal article GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts (2016) Mayr B, Schnabel D, Dörr HG, Schöfl C Journal article Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa (2016) Hammersen J, Has C, Naumann-Bartsch N, Stachel D, Kiritsi D, Söder S, Tardieu M, et al. Journal article A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia (2016) Wohlfart S, Söder S, Smahi A, Schneider H Journal article