Lehrstuhl für Kinder- und Jugendmedizin

Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis. (2021) Vidic C, Zaniew M, Jurga S, Thiele H, Reutter HM, Hilger AC Journal article Assessment of educational and social status of survivors of childhood cancer: Data of a single center late effects clinic (2021) Hahn B, Schuster S, Metzler M, Mackensen A, Meidenbauer N Conference contribution Synergy of simultaneous activation of cell death pathways of unfolded protein response and of protein synthesis inhibition converges at IRE1a-immunotoxins generate a therapeutic window (2021) Gsottberger F, Meier C, Ammon AM, Petkovic S, Mellenthin L, Krumbholz M, Metzler M, et al. Conference contribution Current clinical practice of prenatal dexamethasone treatment in at risk pregnancies for classic 21-hydroxylase deficiency in Europe (2021) Nowotny HF, Neumann U, Tardy-Guidollet V, Ahmed SF, Baronio F, Battelino T, Bertherat J, et al. Conference contribution Safety and effectiveness of pediatric growth hormone therapy: Results from the full cohort in KIGS (2021) Maghnie M, Ranke MB, Geffner ME, Vlachopapadopoulou E, Dörr HG, Wikland KA, Ibanez L, et al. Conference contribution Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO) (2021) Schierbaum LM, Schneider S, Herms S, Sivalingam S, Fabian J, Reutter HM, Weber S, et al. Journal article Assessment of genetic defects, baseline characteristics and adverse events reported in the Increlex (R) registry (2021) Polak M, Bang P, Perrot V, Sert C, Storr HL, Wölfle J Conference contribution Hologene 5: A Phase II/III Clinical Trial of Combined Cell and Gene Therapy of Junctional Epidermolysis Bullosa (2021) De Rosa L, Enzo E, Zardi G, Bodemer C, Magnoni C, Schneider H, De Luca M Journal article The role of de novo variants in patients with congenital diaphragmatic hernia (2021) Bendixen C, Reutter HM Journal article, Review article Pädiatrische epileptische Enzephalopathien mit Manifestation oberhalb des Neugeborenenalters: ein Up-date (2021) Trollmann R, Borggräfe I, Müller-Felber W, Brandl U Journal article, Review article