Istituto Giannina Gaslini

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (2024) Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell 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 ARID1B-related disorder in 87 adults: Natural history and self-sustainability (2024) van der Sluijs PJ, Gösgens M, Dingemans AJ, Striano P, Riva A, Mignot C, Faudet A, et al. Journal article BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations (2024) Peron A, D’Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, et al. Journal article Timing and Modality of Kidney Replacement Therapy in Children and Adolescents (2024) Thumfart J, Wagner S, Kirchner M, Azukaitis K, Bayazit AK, Obrycki L, Canpolat N, 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 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 Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals (2023) Bosch E, Popp B, Güse E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, et al. Journal article 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