Istituto Giannina Gaslini

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 Detection of signature double-negative T cells is a predictive marker to identify autoimmune lymphoproliferative syndrome associated with FAS loss of function (2024) Eisenhauer N, Miano M, Naumann-Bartsch N, Leyh J, Dell'Orso G, Aigner M, Fecker G, et al. Journal article Correction to: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (European Journal of Human Genetics, (2024), 10.1038/s41431-024-01560-8) (2024) Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, et al. Journal article, Erratum Clinical and oncological outcomes in single-stage versus staged surgery for pediatric craniopharyngiomas: a multicenter retrospective study (2023) Agresta G, Campione A, Veiceschi P, Gallo D, Agosti E, Massimi L, Piatelli G, et al. Journal article Response to Letter to the Editor From Viru-Loza and Chavez-Nomberto: "Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort " (2023) Maghnie M, Ranke MB, Geffner ME, Vlachopapadopoulou E, Ibanez L, Carlsson M, Cutfield W, et al. Journal article, Letter The impact of the temporal sequence of cranial radiotherapy and platin-based chemotherapy on hearing impairment in pediatric and adolescent CNS and head-and-neck cancer patients: A report from the PanCareLIFE consortium (2023) Scobioala S, Parfitt R, Matulat P, Byrne J, Langer T, Troschel FM, Hesping AE, 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 Frequency and Predictive Factors of Hypoglycemia in Patients Treated With rhIGF-1: Data From the Eu-IGFD Registry. (2023) Bang P, Polak M, Bossowski A, Maghnie M, Argente J, Ramon-Krauel M, Sert C, et al. Journal article Detection of Signature Double-Negative T Cells Is a Reliable Marker for ALPS Associated with FAS Mutation (2022) Eisenhauer N, Miano M, Naumann-Bartsch N, Leyh J, Terranova P, Hinze C, Aigner M, et al. Conference contribution Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort (2022) Maghnie M, Ranke MB, Geffner ME, Vlachopapadopoulou E, Ibanez L, Carlsson M, Cutfield W, et al. Journal article