Ospedale Pediatrico Bambino Gesu

Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe (2022) Nowotny H, Neumann U, Tardy-Guidollet V, Faisal Ahmed S, Baronio F, Battelino T, Bertherat J, 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 Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study (2022) Spitzer H, Ripart M, Whitaker K, D'Arco F, Mankad K, Chen AA, Napolitano A, et al. Journal article Assessment of systemic and gastrointestinal tissue damage biomarkers for GVHD risk stratification. (2022) Etra A, Gergoudis S, Morales G, Spyrou N, Shah J, Kowalyk S, Ayuk F, et al. Journal article Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort (2022) van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, et al. Journal article SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile (2022) Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, et al. Journal article Evaluation of Elafin as a Prognostic Biomarker in Acute Graft-versus-Host Disease: M. G. Zewde et al (2021) Zewde MG, Morales G, Gandhi I, Özbek U, Aguayo-Hiraldo P, Ayuk F, Baez J, et al. Journal article Prognostic Value of Elafin in Acute Graft-Versus-Host Disease (2021) Zewde MG, Morales G, Gandhi I, Ozbek U, Aguayo-Hiraldo P, Ayuk FA, Baez J, et al. Conference contribution Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss (2021) Richard EM, Bakhtiari S, Marsh AP, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, et al. Journal article Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders (2021) Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, et al. Journal article