Children's Memorial Health Institute / Instytut "Pomnik - Centrum Zdrowia Dziecka"

Combining Congenital Heart Surgical and Interventional Cardiology Outcome Data in a Single Database: The Development of a Patient-Centered Collaboration of the European Congenital Heart Surgeons Association (ECHSA) and the Association for European Paediatric and Congenital Cardiology (AEPC) (2023) Jacobs JP, Krasemann T, Herbst C, Tobota Z, Maruszewski B, Fragata J, Ebels T, et al. Journal article Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy (2023) Kiryluk K, Sanchez-Rodriguez E, Zhou XJ, Zanoni F, Liu L, Mladkova N, Khan A, et al. Journal article Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies (2023) Halawi AA, Burgmaier K, Buescher AK, Dursun I, Erger F, Galiano M, Gessner M, et al. Journal article Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals (2023) Schmetz A, Lüdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, et al. Journal article Clinical implementation of RNA sequencing for Mendelian disease diagnostics (2022) Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, et al. Journal article First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B (2022) Gehlen J, Giel AS, Köllges R, Haas SL, Zhang R, Trcka J, Sungur A, et al. Journal article Risk factors and outcomes associated with recurrent autoimmune hepatitis following liver transplantation (2022) Montano-Loza AJ, Ronca V, Ebadi M, Hansen BE, Hirschfield G, Elwir S, Alsaed M, et al. Journal article PHENOCOPIESOF CLINICALLY DIAGNOSED ARPKD REVEALED IN CHILDREN (2021) Halawi A, Burgmaier K, Buescher A, Dursun I, Galiano M, Gessner M, Gokce I, et al. Conference contribution Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex (2021) Bongaarts A, Mijnsbergen C, Anink JJ, Jansen FE, Spliet WG, den Dunnen WF, Coras R, et al. Journal article Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD) (2020) Burgmaier K, Ariceta G, Bald M, Buescher AK, Burgmaier M, Erger F, Gessner M, et al. Journal article