Istituto Giannina Gaslini

Guidelines for the use of flow cytometry and cell sorting in immunological studies (second edition) () Cossarizza A, Acs A, Adam D, Adam-Klages S, Agace WW, Aghaeepour N, Akdis M, et al. Journal article Long-Acting Growth Hormone Therapy in Pediatric Growth Hormone Deficiency: A Consensus Statement. (2025) Maniatis A, Cutfield W, Dattani M, Deal C, Collett-Solberg PF, Horikawa R, Maghnie M, et al. Journal article Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies (2024) Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, et al. Journal article 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 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 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 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 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