Department of Paediatrics and Adolescent Medicine

Health-related quality of life of children and adolescents with the most common ectodermal dysplasia: focus group study and item development for a condition-specific patient-reported outcome measure (2026) Kügler C, Witt S, Hammersen J, Quitmann J, Schneider H Journal article Fontan associated protein-losing enteropathy is linked to distinct metabolic and hepatic alterations (2026) Schröder C, Fahlbusch FB, Cesnjevar R, Rauh M, Dittrich S, Moosmann J Journal article Free-breathing phase-resolved functional lung (PREFUL) low-field magnetic resonance imaging (LF-MRI) of pulmonary dysfunction after surviving childhood cancer (2026) Dierl A, Hinsen M, Wild EM, Bayerl N, Heiß R, Nagel AM, Schmidt S, et al. Journal article Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022 (2026) Martin S, Kyosovska-Peshtenska G, Audi J, Zarakowska K, Grauman Å, Veldwijk J, Hauber B, et al. Journal article, Review article DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects (2026) Dombrowsky G, van der Laan L, Silva A, Breckpot J, Audain E, Wilsdon A, Levy MA, et al. Journal article Long-term follow-up of scar quality and satisfaction after surgical closure of congenital abdominal wall defects: a single center perspective (2026) Reindl N, Seitz S, Schleier M, Besendörfer M, Diez S Journal article Pain management during interventions in paediatric oncology in Europe – Results from a pan-European survey (2026) Wild EM, Piccolo G, Syrimi E, Kasteler R, Philips B, Vassal G, Sheehan C, et al. Journal article MYH9 Variant p.(Arg424Gly) Alters Nonmuscle Myosin IIA Contraction, Causing Atypical MYH9-related Disease (2026) Pollinger L, Greve JN, Grosch M, Kaliman S, Abuhattum S, Kräter M, Brauer I, 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 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