Lehrstuhl für Kinder- und Jugendmedizin

Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 “knock-out” (2019) Vahidnezhad H, Youssefian L, Daneshpazhooh M, Mahmoudi H, Kariminejad A, Fischer J, Christiansen J, et al. Journal article Lebenssituation von jungen Frauen mit Ullrich-Turner-Syndrom nach dem Ende der Wachstumshormontherapie: Ergebnisse einer Umfrage in Deutschland (2019) Dörr HG, Bettendorf M, Binder G, Brämswig J, Hauffa BP, Holterhus PM, Mohnike K, et al. Journal article Myelin Oligodendrocyte Glycoprotein Antibody-Associated Neuromyelitis Optica Spectrum Disorder in a 6-Year-Old Boy (2019) Kamawal A, Hörning S, Galiano M, Rompel O, Trollmann R Journal article A multicenter, matched case-control analysis comparing burden-of-illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany (2019) Strzelczyk A, Schubert-Bast S, Bast T, Bettendorf U, Fiedler B, Hamer H, Herting A, et al. Journal article Attenuation of Severe Generalized Junctional Epidermolysis Bullosa by Systemic Treatment with Gentamicin (2019) Hammersen J, Neuner A, Wild F, Schneider H Journal article Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany (2019) Strzelczyk A, Kalski M, Bast T, Wiemer-Kruel A, Bettendorf U, Kay L, Kieslich M, et al. Journal article High sensitivity and clonal stability of the genomic fusion as single marker for response monitoring in ETV6-RUNX1-positive acute lymphoblastic leukemia (2019) Hoffmann J, Krumbholz M, Gutiérrez HP, Fillies M, Szymansky A, Bleckmann K, zur Stadt U, et al. Journal article Next-generation reference intervals for pediatric hematology (2019) Zierk J, Hirschmann J, Toddenroth D, Arzideh F, Haeckel R, Bertram A, Cario H, et al. Journal article Quality of life of short-statured children born small for gestational age or idiopathic growth hormone deficiency within one year of growth hormone treatment (2019) Quitmann J, Bloemeke J, Silva N, Bullinger M, Witt S, Akkurt I, Dunstheimer D, 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