Department of Paediatrics and Adolescent Medicine

Das nicht klassische Adrenogenitale Syndrom mit 21-Hydroxylase-Defekt bei Kindern und Jugendlichen (2021) Dörr HG, Schulze N Journal article Noduläre Schilddrüsenbefunde bei zwei Patienten im Alter von 6 und 13 Jahren (2021) Wowra T, Deeg KH Journal article Safety of clonidine used for long-term sedation in paediatric intensive care: A systematic review (2020) Eberl S, Ahne G, Toni I, Standing J, Neubert A Journal article, Review article The Development of Integrin Alpha-8 Deficient Lungs Shows Reduced and Altered Branching and a Correction of the Phenotype During Alveolarization (2020) Cremona TP, Hartner A, Schittny JC Journal article Expanding the spectrum of WDR62 mutations : description of new cases (2020) Ruaud L, Drunat S, Ernault A, Capri Y, Van Maldergem L, Engel C, Altuzarra C, et al. Conference contribution Incidence of Secondary Malignancies After TBI/VP16 Conditioning for Childhood All - Results of the Prospective ALL-SCT-BFM-2003 Trial (2020) Eichinger A, Glogova E, Beier R, Guengoer T, Stachel D, Stachel D, Lang P, et al. Conference contribution Germline variants in transcription factor HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms (2020) Van Walree ES, Dombrowsky G, Jansen IE, Mirkov MU, Zwart R, Ilgun A, Guo D, et al. Conference contribution Tetrasomy of SCN2A associated with refractory neonatal epileptic encephalopathy (2020) Krumbiegel M, Trollmann R, Mammadova D, Schnell A, Kraus C, Ekici AB, Reis A, Zweier C Conference contribution Unexpected phenotypic variability in a family with epilepsy explained by independent segregation of biparental CACNA1A loss-of-function variants (2020) Kraus C, Mammadova D, Leis T, Ekici AB, Thiel C, Reis A, Trollmann R Conference contribution A case of autosomal recessive spinocerebellar ataxia type 18 with a novel mutation in GRID2 (2020) Hetzelt K, Kraus C, Kusnik S, Thiel C, Ekici AB, Reis A, Zweier C Conference contribution