Great Ormond Street Hospital (GOSH)


Location: London, United Kingdom (GB) GB



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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year




Chromatic visual evoked potentials: A review of physiology, methods and clinical applications (2024) Marmoy OR, Tekavčič Pompe M, Kremers J Journal article, Review article Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. (2024) Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, et al. Journal article Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice (2023) Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, et al. Journal article Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies (2023) Halawi AA, Burgmaier K, Buescher AK, Dursun I, Erger F, Galiano M, Gessner M, et al. Journal article Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API) (2023) Speckmann C, Nennstiel U, Hoenig M, Albert MH, Ghosh S, Schuetz C, Brockow I, et al. Journal article Prenatal diagnosis of hypoplastic left heart syndrome on ultrasound using artificial intelligence: How does performance compare to a current screening programme? (2023) Day TG, Budd S, Tan J, Matthew J, Skelton E, Jowett V, Lloyd D, et al. Journal article International comparisons of laboratory values from the 4CE collaborative to predict COVID-19 mortality (2022) Weber GM, Hong C, Xia Z, Palmer NP, Avillach P, L'Yi S, Keller MS, et al. Journal article Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors (2022) Alves CA, Sherbini O, D’Arco F, Steel D, Kurian MA, Radio FC, Ferrero GB, et al. Journal article Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group (2022) Bakhuizen JJ, Hanson H, Van De Tuin K, Lalloo F, Tischkowitz M, Wadt K, Doergeloh BB, et al. Conference contribution Attachment goes to court: Child protection and custody issues El Apego Va a Juicio: Problemas de Custodia y Protección Infantil (2022) Forslund T, Granqvist P, Van Ijzendoorn MH, Sagi-Schwartz A, Glaser D, Steele M, Hammarlund M, et al. Journal article