Lehrstuhl für Kinder- und Jugendmedizin

Deep Phenotyping and Molecular Elucidation of a New Syndrome: Ectodermal Dysplasia Caused by IRF6 Variants (2026) Schneider H, Hadj-Rabia S, Berking C, Weider M, Steffann J, Rieker R, Gölz L, Peschel N Journal article A multi-omics approach to characterize a deep intronic ARID1A deletion in Coffin-Siris syndrome (2026) Schuhmann S, Bosch E, Fink A, Schüssler S, Uebe S, Wiesener A, Ekici AB, et al. Journal article Characteristics and Outcomes of Adolescents (15–18 Years) with Chronic Myelogenous Leukemia (CML) in Chronic Phase: The Experience of the International Registry of Childhood CML † (2026) Millot F, Froment M, Durocher L, Metzler M, De Moerloose B, Brandalise SR, Borisevich M, et al. Journal article German law on protection of children with DSD: first data on care after enactment (2026) Neumann U, Binder G, Eckoldt F, Döhnert U, Dunstheimer D, Holterhus PM, Ludwikowski B, et al. Journal article Hypercholesterolemia and Lipid-Lowering Therapy in Children and Adolescents With Type 1 Diabetes: Do We Implement Current Guidelines? (2026) Weiskorn J, Becker M, Kamrath C, Hammersen J, Bechtold-Dalla Pozza S, Müller-Roßberg E, Holder M, et al. Journal article Inflammation significantly alters mucosal transcriptomic signatures in pediatric inflammatory bowel disease (2026) Schnell A, Wei X, Bossenz J, Manuilova I, Christoph J, Allabauer I, Claßen M, et al. Journal article Children with chronic-phase chronic myeloid leukemia: characteristics and outcomes from the International Registry of Childhood CML (2026) Millot F, De Keizer J, Metzler M, Kalwak K, Günes AM, De Moerloose B, Luesink M, et al. Journal article Mapping lung function in late-onset Pompe disease using label-free functional MRI (2026) Tan L, Wagner A, Heiß R, Bayerl N, Zschüntzsch J, Regensburger A, Alves F, et al. Journal article Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program (2026) Graafen L, Speckmann C, Bakhtiar S, Bernuth Hv, Lehmberg K, Bader P, Baumann U, et al. Journal article Personalized Fluence Correction for Photoacoustic Imaging Using Ultrasound-Based Tissue Segmentation (2026) Schillinger M, Schlereth M, Wachter F, Bühler A, Gillet J, Zahnd G, Breininger K Conference contribution, Abstract of a poster