Lehrstuhl für Kinder- und Jugendmedizin

Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? (2019) Vasileiou G, Hoyer J, Thiel C, Schaefer JT, Zapke M, Krumbiegel M, Kraus C, et al. Journal article The preleukemic TCF3-PBX1 gene fusion can be generated in utero and is present in ≈0.6% of healthy newborns (2019) Hein D, Dreisig K, Metzler M, Izraeli S, Schmiegelow K, Borkhardt A, Fischer U Journal article Delineation of the clinical phenotype caused by de novo CLTC variants (2019) Sa MJN, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, et al. Conference contribution Clinical characteristics, resource utilization, quality of life and care situation for patients with Dravet syndrome in Germany (2019) Kalski M, Schubert-Bast S, Kieslich M, Leyer AC, Polster T, Herting A, Mayer T, et al. Journal article Development and Usability Analysis of a Multimedia eConsent Solution (2019) Schneiderheinze H, Prokosch HU, Apel H, Bellut L, Wullich B, Trollmann R, Schüttler C Book chapter / Article in edited volumes Homozygous Biallelic KRT5 Mutations in Epidermolysis Bullosa Simplex, Including a Complete Human Keratin 5 "Knock-Out", in Families with Extensive Consanguinity (2019) Vahidnezhad H, Youssefian L, Daneshpazhooh M, Mahmoudi H, Kariminejad A, Fischer J, Christiansen J, et al. Conference contribution First-year predictors of health-related quality of life changes in short-statured children treated with human growth hormone (2019) Quitmann J, Bloemeke J, Dörr HG, Bullinger M, Witt S, Silva N Journal article Seizure management and prescription patterns of anticonvulsants in Dravet syndrome: A multicenter cohort study from Germany and review of literature (2019) Schubert-Bast S, Wolff M, Wiemer-Kruel A, von Spiczak S, Trollmann R, Reif PS, Pritchard C, et al. Journal article Postoperative pain in small-for-gestational age infants after hernia repair, orchidopexy and urethral reconstruction surgery: A pilot study (2019) Schüssler SC, Kußmann F, Fahlbusch FB, Münster T, Hirsch K, Carbon R, Albrecht S, et al. Journal article Brittle-Cornea-Syndrom Typ 1 durch Compound-Heterozygotie zweier Mutationen im ZNF469-Gen (2019) Menzel-Severing J, Meiller R, Kraus C, Trollmann R, Atalay D Journal article