Ospedale Pediatrico Bambino Gesu

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 The role of kras mutations in cortical malformation and epilepsy surgery: A novel report of nevus sebaceous syndrome and review of the literature (2021) Pepi C, De Palma L, Trivisano M, Pietrafusa N, Lepri FR, Diociaiuti A, Camassei FD, et al. Journal article, Review article Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior (2021) Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, et al. Journal article Клинические практические рекомендации IPNA по диагностике и лечению детей со стероид-резистентным нефротическим синдромом (2021) Trautmann A, Vivarelli M, Samuel S, Gipson D, Sinha A, Schaefer F, Hui NK, et al. Journal article The Magic Biomarker Algorithm Predicts Outcomes for Children with Acute Graft Versus Host Disease (2020) Qayed M, Kapoor U, Gillespie S, Mccracken C, Abusin G, Aguayo-Hiraldo P, Ayuk F, et al. Conference contribution Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD) (2020) Burgmaier K, Ariceta G, Bald M, Buescher AK, Burgmaier M, Erger F, Gessner M, et al. Journal article