Universitäts-Kinderspital Zürich

The functional consequences of SCN2A mutations determine the phenotype (2019) Begemann A, Acuna M, Zweier M, Sticht H, Steindl K, Besnard M, Hackenberg A, et al. Conference contribution The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study (2019) Papuc SM, Abela L, Steindl K, Begemann A, Simmons TL, Schmitt B, Zweier M, et al. Journal article Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes (2019) Begemann A, Acuna MA, Zweier M, Vincent M, Steindl K, Bachmann-Gagescu R, Hackenberg A, et al. Journal article Presence of centromeric but absence of telomeric group B KIR haplotypes in stem cell donors improve leukaemia control after HSCT for childhood ALL (2019) Babor F, Peters C, Manser AR, Glogova E, Sauer M, Pötschger U, Ahlmann M, et al. Journal article Antithrombotic therapy in pediatric ventricular assist devices: Multicenter survey of the European EXCOR Pediatric Investigator Group (2018) Miera O, Schmitt KL, Akintuerk H, Boet A, Cesnjevar R, Chilas T, Fleck T, et al. Journal article Feasibility, safety and diagnostic impact of endomyocardial biopsies for the diagnosis of myocardial disease in children and adolescents (2018) Mueller GC, Michel-Behnke I, Knirsch W, Haas NA, Abdul-Khaliq H, Gitter R, Dittrich S, et al. Journal article Low incidence of symptomatic osteonecrosis after allogeneic HSCT in children with high-risk or relapsed ALL - results of the ALL-SCT 2003 trial (2018) Kuhlen M, Bader P, Sauer M, Albert MH, Gruhn B, Gungor T, Kropshofer G, et al. Journal article Factors increasing the risk for a severe reaction in anaphylaxis: An analysis of data from The European Anaphylaxis Registry (2018) Worm M, Francuzik W, Renaudin JM, Bilo MB, Cardona V, Hofmeier KS, Kohli A, et al. Journal article Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling (2018) Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, et al. Journal article Current Practice of Anticoagulation for Pediatric VAD Therapy - A Multi-Institutional European Survey of the EXCOR Pediatric Investigator Group (EEPIG) (2017) Miera O, Schmitt KR, Menon AK, Ersel S, Reiprich A, Akintuerk H, Thul J, et al. Conference contribution