Great Ormond Street Hospital (GOSH)

Hospital


Location: London, United Kingdom (GB) GB

ISNI: -

ROR: https://ror.org/00zn2c847

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Types of publications

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Unpublished / Preprint

Publication year

From
To

Abstract

Journal

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 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