Great Ormond Street Hospital (GOSH)

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 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 PHENOCOPIESOF CLINICALLY DIAGNOSED ARPKD REVEALED IN CHILDREN (2021) Halawi A, Burgmaier K, Buescher A, Dursun I, Galiano M, Gessner M, Gokce I, et al. Conference contribution Myositis-specific and myositis-associated autoantibodies predict trajectories of damage over time in idiopathic inflammatory myopathies (2021) Espinosa-Ortega F, Holmqvist M, Lodin K, Dastmalchi M, Danieli MG, Venkovsky J, Knitza J, et al. Conference contribution European Federation of Societies for Ultrasound in Medicine and Biology (EFSUMB): An Update on the Pediatric CEUS Registry on Behalf of the "EFSUMB Pediatric CEUS Registry Working Group" (2021) Dietrich CF, Augustiniene R, Batko T, Cantisani V, Cekuolis A, Deganello A, Dong Y, et al. Journal article Making sense of missense variants in TTN-related congenital myopathies (2021) Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, et al. Journal article Contrast-enhanced ultrasound of the small organs in children (2021) Piskunowicz M, Back SJ, Darge K, Humphries PD, Jüngert JM, Ključevšek D, Lorenz N, et al. Journal article, Review article Attachment goes to court: child protection and custody issues (2021) Forslund T, Granqvist P, van IJzendoorn MH, Sagi-Schwartz A, Glaser D, Steele M, Hammarlund M, et al. Journal article Treosulfan-fludarabine-thiotepa-based conditioning treatment before allogeneic hematopoietic stem cell transplantation for pediatric patients with hematological malignancies (2020) Kalwak K, Mielcarek M, Patrick K, Styczynski J, Bader P, Corbacioglu S, Burkhardt B, et al. Journal article Collagen VI -related myopathy (2020) Prottengeier J, Shammas K, Smith J Journal article