Department of Paediatrics and Adolescent Medicine

Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update (2022) Peschel N, Wright JT, Koster MI, Clarke AJ, Tadini G, Fete M, Hadj-Rabia S, et al. Journal article Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study (2022) Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, et al. Journal article Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis (2022) Kožich V, Schwahn BC, Sokolová J, Křížková M, Ditroi T, Krijt J, Khalil Y, et al. Journal article Correction to: Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany (Orphanet Journal of Rare Diseases, (2022), 17, 1, (276), 10.1186/s13023-022-02420-8) (2022) Hahn A, Günther R, Ludolph A, Schwartz O, Trollmann R, Weydt P, Weiler M, et al. Journal article, Erratum German Registry for Cardiac Operations and Interventions in Patients with Congenital Heart Disease: Report 2021 and 9 Years' Longitudinal Observations on Fallot and Coarctation Patients (2022) Dittrich S, Arenz C, Krogmann O, Tengler A, Meyer R, Bauer U, Hofbeck M, et al. Journal article Mixture density networks for the indirect estimation of reference intervals (2022) Hepp T, Zierk J, Rauh M, Metzler M, Seitz S Journal article Long-Term Results after Fallot Repair (2022) Kleinöder J, Purbojo A, Blumauer R, Cuomo M, Alkassar M, Dittrich S, Cesnjevar R Journal article High-resolution label-free mapping of murine kidney vasculature by raster-scanning optoacoustic mesoscopy: an ex vivo study (2022) Goebel CA, Brown E, Fahlbusch F, Wagner A, Buehler A, Raupach T, Hohmann M, et al. Journal article Influence of the autotaxin-lysophosphatidic acid axis on cellular function and cytokine expression in different breast cancer cell lines (2022) Hauck T, Kadam S, Heinz K, Garcia Peraza M, Schmid R, Kremer A, Wolf K, et al. Journal article DMBT1 is upregulated in cystic fibrosis, affects ciliary motility, and is reduced by acetylcysteine (2022) Kiefer A, Plattner E, Ruppel R, Weiss C, Zhou-Suckow Z, Mall M, Renner M, Müller H Journal article