Department of Paediatrics and Adolescent Medicine

Hybrid reflected-ultrasound computed tomography versus B-mode-ultrasound for muscle scoring in spinal muscular atrophy (2023) Danko V, Jüngert JM, Schüssler S, Bühler A, Klett D, Federle A, Roos A, et al. Journal article Age-related Differences in Immune Reactions to SARS-CoV-2 Spike and Nucleocapsid Antigens (2023) Morhart P, Kehl S, Schuh W, Hermes K, Meltendorf S, Neubert A, Schneider M, et al. Journal article High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations (2023) Reutter HM Journal article Effects of the STAMP-inhibitor asciminib on T cell activation and metabolic fitness compared to tyrosine kinase inhibition by imatinib, dasatinib, and nilotinib (2023) Häselbarth L, Karow A, Mentz K, Böttcher M, Roche-Lancaster O, Krumbholz M, Jitschin R, et al. Journal article Novel p.G250A Mutation Associated with Chronic Pancreatitis Highlights Misfolding-Prone Region in Carboxypeptidase A1 (CPA1) (2022) Sandor M, Thiel FG, Schmid M, Demcsak A, Granda NCM, Nemeth BC, Vajda S, et al. Journal article Primary Periphyseal Stress Injuries of the Fingers in Adolescent Climbers: A Critical Review (2022) Jones G, Johnson R, Schöffl VR, Schöffl I, Lutter C, Johnson M, Halsey T Journal article, Review article 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