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Professur für Kinder- u. Jugendmedizin Schwerpunkt Neuropädiatrie
Lehrstuhl für Kinder- und Jugendmedizin
Overview
Publications
(145)
Research Grants
(1)
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Journal article
Journal article
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Book chapter / Article in edited volumes
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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
Somatosensory evoked fields at 36 weeks' gestation in preterm infants: A pilot study of thalamocortical maturation (2026)
Schüssler S, Fahlbusch FB, Niederreiter U, Kaltenhäuser M, Reutter HM, Trollmann R, Rampp S
Journal article
Effects of Lipid-Induced Magnetic Microstructure on Fat Fraction Quantification in Muscular Dystrophies (2026)
Baudin PY, Reyngoudt H, Schunk V, Graf S, Mayer A, Starke A, Roemer F, et al.
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
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
Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis (2026)
Hohenfellner K, Wühl E, Haffner D, Weitzel D, Tsygin A, Trollmann R, Steidle G, et al.
Journal article
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia (2026)
Mignot C, Papathanasiou Terzi MA, Ravelli C, Bosch E, Lin X, Trauffler A, Caumes R, et al.
Journal article
Longitudinal functional lung imaging in children with Post-COVID-19 syndrome (2026)
Kraus C, Tan L, Hinsen M, Schmidt S, Nedoschill E, Wachter F, Mandelbaum H, et al.
Journal article
Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types (2025)
Disse S, Ramantani G, Küpper H, Bock A, Korenke GC, Weidner B, Preisel M, et al.
Journal article
Derivation and validation of a non-invasive optoacoustic imaging biomarker for detection of patients with intermittent claudication (2025)
Caranovic M, Kempf J, Li Y, Regensburger A, Günther J, Träger AP, Lang W, et al.
Journal article
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