Ospedale Pediatrico Bambino Gesu

Patient preferences in genetic newborn screening for rare diseases: study protocol (2024) Martin S, Angolini E, Audi J, Bertini E, Bruno LP, Coulter J, Ferlini A, et al. Journal article Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue (2024) Sanders MW, Van Der Wolf I, Jansen FE, Aronica E, Helmstaedter C, Racz A, Surges R, et al. Journal article Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024) Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al. Journal article The European Anorectal Malformation Network (ARM-Net) patient registry: 10-year review of clinical and surgical characteristics. (2024) Hageman IC, Midrio P, van der Steeg HJ, Jenetzky E, Iacobelli BD, Morandi A, Sloots CE, et al. Journal article, Review article Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function. (2024) Carpentieri G, Cecchetti S, Bocchinfuso G, Radio FC, Leoni C, Onesimo R, Calligari P, et al. Journal article Differences in Acute Graft-Versus-Host Disease (GVHD) Severity and Its Outcomes Between Black and White Patients (2024) Rios CA, Qayed M, Etra AM, Reshef R, Newcomb R, Yuhasz N, Hexner EO, et al. Journal article Novel MAGIC composite scores using both clinical symptoms and biomarkers best predict treatment outcomes of acute GVHD (2024) Akahoshi Y, Spyrou N, Weber D, Aguayo-Hiraldo P, Ayuk F, Chanswangphuwana C, Choe HK, et al. Journal article Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. (2024) Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, et al. Journal article Flares of acute graft-versus-host disease: a Mount Sinai Acute GVHD International Consortium analysis. (2024) Akahoshi Y, Spyrou N, Hoepting M, Aguayo-Hiraldo P, Ayuk F, Chanswangphuwana C, Choe HK, et al. Journal article NAB2::STAT6 fusions and genome-wide DNA methylation profiling: Predictors of patient outcomes in meningeal solitary fibrous tumors (2024) Eschbacher KL, Tran QT, Moskalev E, Jenkins S, Fritchie K, Stöhr R, Caron A, et al. Journal article